Fetal presentation of chondrodysplasia with joint dislocations, GPAPP type, caused by novel biallelic IMPAD1 variants.
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| Title: | Fetal presentation of chondrodysplasia with joint dislocations, GPAPP type, caused by novel biallelic IMPAD1 variants. |
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| Authors: | Venkatapuram VS; Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, India.; Division of Diagnostics, Centre for DNA Fingerprinting & Diagnostics, Hyderabad, India., Aggarwal S; Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, India.; Division of Diagnostics, Centre for DNA Fingerprinting & Diagnostics, Hyderabad, India., Kulkarni AD; Department of Pathology, Apollo Hospitals, Hyderabad, India., Vineeth VS; Division of Diagnostics, Centre for DNA Fingerprinting & Diagnostics, Hyderabad, India., Bhikaji Dalal A; Division of Diagnostics, Centre for DNA Fingerprinting & Diagnostics, Hyderabad, India., Bhat V; Department of Radiology, Mazumdar Shaw Medical Center, Narayana Hrudayalaya Hospitals, Bangalore, India., Kiran L; Department of Obstetrics and Gynecology, Mazumdar Shaw Medical Center, Narayana Hrudayalaya Hospitals, Bangalore, India., Patil SJ; Division of Medical Genetics, Mazumdar Shaw Medical Center, Narayana Hrudayalaya Hospitals, Bangalore, India. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2022 Apr; Vol. 188 (4), pp. 1287-1292. Date of Electronic Publication: 2022 Jan 06. |
| Publication Type: | Case Reports; Research Support, Non-U.S. Gov't; Journal Article |
| Journal Info: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 34989141 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Fetal presentation of chondrodysplasia with joint dislocations, GPAPP type, caused by novel biallelic IMPAD1 variants. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Venkatapuram+VS%22">Venkatapuram VS</searchLink>; Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, India.; Division of Diagnostics, Centre for DNA Fingerprinting & Diagnostics, Hyderabad, India.<br /><searchLink fieldCode="AU" term="%22Aggarwal+S%22">Aggarwal S</searchLink>; Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, India.; Division of Diagnostics, Centre for DNA Fingerprinting & Diagnostics, Hyderabad, India.<br /><searchLink fieldCode="AU" term="%22Kulkarni+AD%22">Kulkarni AD</searchLink>; Department of Pathology, Apollo Hospitals, Hyderabad, India.<br /><searchLink fieldCode="AU" term="%22Vineeth+VS%22">Vineeth VS</searchLink>; Division of Diagnostics, Centre for DNA Fingerprinting & Diagnostics, Hyderabad, India.<br /><searchLink fieldCode="AU" term="%22Bhikaji+Dalal+A%22">Bhikaji Dalal A</searchLink>; Division of Diagnostics, Centre for DNA Fingerprinting & Diagnostics, Hyderabad, India.<br /><searchLink fieldCode="AU" term="%22Bhat+V%22">Bhat V</searchLink>; Department of Radiology, Mazumdar Shaw Medical Center, Narayana Hrudayalaya Hospitals, Bangalore, India.<br /><searchLink fieldCode="AU" term="%22Kiran+L%22">Kiran L</searchLink>; Department of Obstetrics and Gynecology, Mazumdar Shaw Medical Center, Narayana Hrudayalaya Hospitals, Bangalore, India.<br /><searchLink fieldCode="AU" term="%22Patil+SJ%22">Patil SJ</searchLink>; Division of Medical Genetics, Mazumdar Shaw Medical Center, Narayana Hrudayalaya Hospitals, Bangalore, India. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2022 Apr; Vol. 188 (4), pp. 1287-1292. <i>Date of Electronic Publication: </i>2022 Jan 06. – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; Research Support, Non-U.S. Gov't; Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Blackwell%22">Wiley-Blackwell </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101235741 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1552-4833 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2215524825%22">15524825 </searchLink><i>NLM ISO Abbreviation: </i>Am J Med Genet A <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=34989141 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/ajmg.a.62622 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 1287 Titles: – TitleFull: Fetal presentation of chondrodysplasia with joint dislocations, GPAPP type, caused by novel biallelic IMPAD1 variants. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Venkatapuram VS – PersonEntity: Name: NameFull: Aggarwal S – PersonEntity: Name: NameFull: Kulkarni AD – PersonEntity: Name: NameFull: Vineeth VS – PersonEntity: Name: NameFull: Bhikaji Dalal A – PersonEntity: Name: NameFull: Bhat V – PersonEntity: Name: NameFull: Kiran L – PersonEntity: Name: NameFull: Patil SJ IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 04 Text: 2022 Apr Type: published Y: 2022 Identifiers: – Type: issn-electronic Value: 1552-4833 Numbering: – Type: volume Value: 188 – Type: issue Value: 4 Titles: – TitleFull: American journal of medical genetics. Part A Type: main |
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