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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.
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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  Data: Phenotypic Expansion: Fetus With Cole-Carpenter Type 2 Presenting With Novel Neonatal Lethal Skeletal Dysplasia.
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  Data: <searchLink fieldCode="AU" term="%22Burrill+N%22">Burrill N</searchLink>; The Children's Hospital of Philadelphia, Department of Pediatrics, Individualized Medical Genetics Center, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Teefey+CP%22">Teefey CP</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Wright+R%22">Wright R</searchLink>; Children's Hospital of Philadelphia, Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Huynh+MH%22">Huynh MH</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Schindewolf+E%22">Schindewolf E</searchLink>; Children's Hospital of Philadelphia, Department of Pediatrics, Undiagnosed Disease Network, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Pilchman+L%22">Pilchman L</searchLink>; Children's Hospital of Philadelphia, Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Crane+H%22">Crane H</searchLink>; Children's Hospital of Philadelphia, Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Noyes+AG%22">Noyes AG</searchLink>; GeneDx, Gaithersburg, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Roman+A%22">Roman A</searchLink>; Thomas Jefferson University Hospital, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Gulersen+M%22">Gulersen M</searchLink>; Thomas Jefferson University Hospital, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Moldenhauer+JS%22">Moldenhauer JS</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2025 May; Vol. 197 (5), pp. e63988. <i>Date of Electronic Publication: </i>2025 Jan 08.
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  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
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