View in EDS

Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations.

Saved in:
Bibliographic Details
Title: Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations.
Authors: Hughes JJ; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA., Alkhunaizi E; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, M5G 1X5, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, M5G 1X8, Canada., Kruszka P; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address: paul.kruszka@nih.gov., Pyle LC; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Grange DK; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO, 63110, USA., Berger SI; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA; Center for Genetic Medicine Research, Children's National Hospital, Washington, DC 20010, USA; Department of Genomics and Precision Medicine, George Washington University, Washington, DC 20037, USA., Payne KK; Division of Child Neurology, Riley Hospital for Children, Indianapolis, Indiana, 46202, USA., Masser-Frye D; Department of Pediatrics, Division of Genetics, University of California San Diego-Rady Children's Hospital, San Diego, CA 92123, USA., Hu T; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA., Christie MR; Texas Scottish Rite Hospital for Children, Dallas, TX 75219, USA., Clegg NJ; Texas Scottish Rite Hospital for Children, Dallas, TX 75219, USA., Everson JL; Department of Comparative Biosciences, School of Veterinary Medicine, University of Wisconsin-Madison, Madison, WI 53706, USA; Molecular and Environmental Toxicology Center, University of Wisconsin-Madison, Madison, WI 53706, USA., Martinez AF; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA., Walsh LE; Division of Child Neurology, Riley Hospital for Children, Indianapolis, Indiana, 46202, USA., Bedoukian E; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Jones MC; Department of Pediatrics, Division of Genetics, University of California San Diego-Rady Children's Hospital, San Diego, CA 92123, USA., Harris CJ; Department of Pediatric Genetics, University of Missouri Medical Center, Columbia, MO 65212, USA., Riedhammer KM; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, 4JQ2+9Q, Germany; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, Munich, 4JQ2+9Q, Germany., Choukair D; Division of Paediatric Endocrinology and Diabetology, University Children's Hospital, 69120 Heidelberg, Germany., Fechner PY; Division of Pediatric Endocrinology, Seattle Children's Hospital, University of Washington, Seattle, WA 98105, USA., Rutter MM; Division of Endocrinology, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA., Hufnagel SB; Rare Disease Institute, Children's National Hospital, Washington, DC 20010, USA., Roifman M; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, M5G 1X5, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, M5G 1X8, Canada., Kletter GB; Pediatric Endocrinology, Mary Bridge Children's Hospital, Tacoma, WA 98404, USA., Delot E; Center for Genetic Medicine Research, Children's National Hospital, Washington, DC 20010, USA; Department of Genomics and Precision Medicine, George Washington University, Washington, DC 20037, USA., Vilain E; Center for Genetic Medicine Research, Children's National Hospital, Washington, DC 20010, USA; Department of Genomics and Precision Medicine, George Washington University, Washington, DC 20037, USA., Lipinski RJ; Department of Comparative Biosciences, School of Veterinary Medicine, University of Wisconsin-Madison, Madison, WI 53706, USA; Molecular and Environmental Toxicology Center, University of Wisconsin-Madison, Madison, WI 53706, USA., Vezina CM; Department of Comparative Biosciences, School of Veterinary Medicine, University of Wisconsin-Madison, Madison, WI 53706, USA; Molecular and Environmental Toxicology Center, University of Wisconsin-Madison, Madison, WI 53706, USA., Muenke M; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA., Chitayat D; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, M5G 1X5, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, M5G 1X8, Canada.
Source: American journal of human genetics [Am J Hum Genet] 2020 Jan 02; Vol. 106 (1), pp. 121-128. Date of Electronic Publication: 2019 Dec 26.
Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural
Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
FullText Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 31883643
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Hughes+JJ%22">Hughes JJ</searchLink>; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.<br /><searchLink fieldCode="AU" term="%22Alkhunaizi+E%22">Alkhunaizi E</searchLink>; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, M5G 1X5, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, M5G 1X8, Canada.<br /><searchLink fieldCode="AU" term="%22Kruszka+P%22">Kruszka P</searchLink>; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address: paul.kruszka@nih.gov.<br /><searchLink fieldCode="AU" term="%22Pyle+LC%22">Pyle LC</searchLink>; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.<br /><searchLink fieldCode="AU" term="%22Grange+DK%22">Grange DK</searchLink>; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO, 63110, USA.<br /><searchLink fieldCode="AU" term="%22Berger+SI%22">Berger SI</searchLink>; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA; Center for Genetic Medicine Research, Children's National Hospital, Washington, DC 20010, USA; Department of Genomics and Precision Medicine, George Washington University, Washington, DC 20037, USA.<br /><searchLink fieldCode="AU" term="%22Payne+KK%22">Payne KK</searchLink>; Division of Child Neurology, Riley Hospital for Children, Indianapolis, Indiana, 46202, USA.<br /><searchLink fieldCode="AU" term="%22Masser-Frye+D%22">Masser-Frye D</searchLink>; Department of Pediatrics, Division of Genetics, University of California San Diego-Rady Children's Hospital, San Diego, CA 92123, USA.<br /><searchLink fieldCode="AU" term="%22Hu+T%22">Hu T</searchLink>; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.<br /><searchLink fieldCode="AU" term="%22Christie+MR%22">Christie MR</searchLink>; Texas Scottish Rite Hospital for Children, Dallas, TX 75219, USA.<br /><searchLink fieldCode="AU" term="%22Clegg+NJ%22">Clegg NJ</searchLink>; Texas Scottish Rite Hospital for Children, Dallas, TX 75219, USA.<br /><searchLink fieldCode="AU" term="%22Everson+JL%22">Everson JL</searchLink>; Department of Comparative Biosciences, School of Veterinary Medicine, University of Wisconsin-Madison, Madison, WI 53706, USA; Molecular and Environmental Toxicology Center, University of Wisconsin-Madison, Madison, WI 53706, USA.<br /><searchLink fieldCode="AU" term="%22Martinez+AF%22">Martinez AF</searchLink>; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.<br /><searchLink fieldCode="AU" term="%22Walsh+LE%22">Walsh LE</searchLink>; Division of Child Neurology, Riley Hospital for Children, Indianapolis, Indiana, 46202, USA.<br /><searchLink fieldCode="AU" term="%22Bedoukian+E%22">Bedoukian E</searchLink>; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.<br /><searchLink fieldCode="AU" term="%22Jones+MC%22">Jones MC</searchLink>; Department of Pediatrics, Division of Genetics, University of California San Diego-Rady Children's Hospital, San Diego, CA 92123, USA.<br /><searchLink fieldCode="AU" term="%22Harris+CJ%22">Harris CJ</searchLink>; Department of Pediatric Genetics, University of Missouri Medical Center, Columbia, MO 65212, USA.<br /><searchLink fieldCode="AU" term="%22Riedhammer+KM%22">Riedhammer KM</searchLink>; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, 4JQ2+9Q, Germany; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, Munich, 4JQ2+9Q, Germany.<br /><searchLink fieldCode="AU" term="%22Choukair+D%22">Choukair D</searchLink>; Division of Paediatric Endocrinology and Diabetology, University Children's Hospital, 69120 Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Fechner+PY%22">Fechner PY</searchLink>; Division of Pediatric Endocrinology, Seattle Children's Hospital, University of Washington, Seattle, WA 98105, USA.<br /><searchLink fieldCode="AU" term="%22Rutter+MM%22">Rutter MM</searchLink>; Division of Endocrinology, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA.<br /><searchLink fieldCode="AU" term="%22Hufnagel+SB%22">Hufnagel SB</searchLink>; Rare Disease Institute, Children's National Hospital, Washington, DC 20010, USA.<br /><searchLink fieldCode="AU" term="%22Roifman+M%22">Roifman M</searchLink>; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, M5G 1X5, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, M5G 1X8, Canada.<br /><searchLink fieldCode="AU" term="%22Kletter+GB%22">Kletter GB</searchLink>; Pediatric Endocrinology, Mary Bridge Children's Hospital, Tacoma, WA 98404, USA.<br /><searchLink fieldCode="AU" term="%22Delot+E%22">Delot E</searchLink>; Center for Genetic Medicine Research, Children's National Hospital, Washington, DC 20010, USA; Department of Genomics and Precision Medicine, George Washington University, Washington, DC 20037, USA.<br /><searchLink fieldCode="AU" term="%22Vilain+E%22">Vilain E</searchLink>; Center for Genetic Medicine Research, Children's National Hospital, Washington, DC 20010, USA; Department of Genomics and Precision Medicine, George Washington University, Washington, DC 20037, USA.<br /><searchLink fieldCode="AU" term="%22Lipinski+RJ%22">Lipinski RJ</searchLink>; Department of Comparative Biosciences, School of Veterinary Medicine, University of Wisconsin-Madison, Madison, WI 53706, USA; Molecular and Environmental Toxicology Center, University of Wisconsin-Madison, Madison, WI 53706, USA.<br /><searchLink fieldCode="AU" term="%22Vezina+CM%22">Vezina CM</searchLink>; Department of Comparative Biosciences, School of Veterinary Medicine, University of Wisconsin-Madison, Madison, WI 53706, USA; Molecular and Environmental Toxicology Center, University of Wisconsin-Madison, Madison, WI 53706, USA.<br /><searchLink fieldCode="AU" term="%22Muenke+M%22">Muenke M</searchLink>; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.<br /><searchLink fieldCode="AU" term="%22Chitayat+D%22">Chitayat D</searchLink>; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, M5G 1X5, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, M5G 1X8, Canada.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%220370475%22">American journal of human genetics</searchLink> [Am J Hum Genet] 2020 Jan 02; Vol. 106 (1), pp. 121-128. <i>Date of Electronic Publication: </i>2019 Dec 26.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Case Reports; Journal Article; Research Support, N.I.H., Extramural
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Cell+Press%22">Cell Press </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>0370475 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1537-6605 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200029297%22">00029297 </searchLink><i>NLM ISO Abbreviation: </i>Am J Hum Genet <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=31883643
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1016/j.ajhg.2019.12.004
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 121
    Titles:
      – TitleFull: Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Hughes JJ
      – PersonEntity:
          Name:
            NameFull: Alkhunaizi E
      – PersonEntity:
          Name:
            NameFull: Kruszka P
      – PersonEntity:
          Name:
            NameFull: Pyle LC
      – PersonEntity:
          Name:
            NameFull: Grange DK
      – PersonEntity:
          Name:
            NameFull: Berger SI
      – PersonEntity:
          Name:
            NameFull: Payne KK
      – PersonEntity:
          Name:
            NameFull: Masser-Frye D
      – PersonEntity:
          Name:
            NameFull: Hu T
      – PersonEntity:
          Name:
            NameFull: Christie MR
      – PersonEntity:
          Name:
            NameFull: Clegg NJ
      – PersonEntity:
          Name:
            NameFull: Everson JL
      – PersonEntity:
          Name:
            NameFull: Martinez AF
      – PersonEntity:
          Name:
            NameFull: Walsh LE
      – PersonEntity:
          Name:
            NameFull: Bedoukian E
      – PersonEntity:
          Name:
            NameFull: Jones MC
      – PersonEntity:
          Name:
            NameFull: Harris CJ
      – PersonEntity:
          Name:
            NameFull: Riedhammer KM
      – PersonEntity:
          Name:
            NameFull: Choukair D
      – PersonEntity:
          Name:
            NameFull: Fechner PY
      – PersonEntity:
          Name:
            NameFull: Rutter MM
      – PersonEntity:
          Name:
            NameFull: Hufnagel SB
      – PersonEntity:
          Name:
            NameFull: Roifman M
      – PersonEntity:
          Name:
            NameFull: Kletter GB
      – PersonEntity:
          Name:
            NameFull: Delot E
      – PersonEntity:
          Name:
            NameFull: Vilain E
      – PersonEntity:
          Name:
            NameFull: Lipinski RJ
      – PersonEntity:
          Name:
            NameFull: Vezina CM
      – PersonEntity:
          Name:
            NameFull: Muenke M
      – PersonEntity:
          Name:
            NameFull: Chitayat D
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 02
              M: 01
              Text: 2020 Jan 02
              Type: published
              Y: 2020
          Identifiers:
            – Type: issn-electronic
              Value: 1537-6605
          Numbering:
            – Type: volume
              Value: 106
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: American journal of human genetics
              Type: main
ResultId 1