Phenotypic Expansion: Fetus With Cole-Carpenter Type 2 Presenting With Novel Neonatal Lethal Skeletal Dysplasia.
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| Title: | Phenotypic Expansion: Fetus With Cole-Carpenter Type 2 Presenting With Novel Neonatal Lethal Skeletal Dysplasia. |
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| Authors: | Burrill N; The Children's Hospital of Philadelphia, Department of Pediatrics, Individualized Medical Genetics Center, Philadelphia, Pennsylvania, USA., Teefey CP; Children's Hospital of Philadelphia, Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, Philadelphia, Pennsylvania, USA.; Department of Surgery, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Wright R; Children's Hospital of Philadelphia, Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, Philadelphia, Pennsylvania, USA., Huynh MH; Children's Hospital of Philadelphia, Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, Philadelphia, Pennsylvania, USA.; Department of Clinical Radiology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Schindewolf E; Children's Hospital of Philadelphia, Department of Pediatrics, Undiagnosed Disease Network, Philadelphia, Pennsylvania, USA., Pilchman L; Children's Hospital of Philadelphia, Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, Philadelphia, Pennsylvania, USA., Crane H; Children's Hospital of Philadelphia, Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, Philadelphia, Pennsylvania, USA., Noyes AG; GeneDx, Gaithersburg, Maryland, USA., Roman A; Thomas Jefferson University Hospital, Philadelphia, Pennsylvania, USA., Gulersen M; Thomas Jefferson University Hospital, Philadelphia, Pennsylvania, USA., Moldenhauer JS; Children's Hospital of Philadelphia, Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, Philadelphia, Pennsylvania, USA.; Department of Surgery, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2025 May; Vol. 197 (5), pp. e63988. Date of Electronic Publication: 2025 Jan 08. |
| Publication Type: | Case Reports; 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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| ISSN: | 1552-4833 |
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| DOI: | 10.1002/ajmg.a.63988 |
