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Expanding the phenotypic spectrum of Mendelian connective tissue disorders to include prominent kidney phenotypes.

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Title: Expanding the phenotypic spectrum of Mendelian connective tissue disorders to include prominent kidney phenotypes.
Authors: Strong A; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Skraban C; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Meyers K; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Division of Nephrology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Amaral S; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Division of Nephrology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Furth S; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Division of Nephrology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Drant S; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Division of Cardiology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Hsiao W; Division of Nephrology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Galea L; Division of Nephrology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Gold J; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Gold NB; Division of Medical Genetics and Metabolism, Massachusetts General Hospital, Boston, Massachusetts, USA.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA., Leonard J; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Lopez S; Division of Nephrology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Zackai EH; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Pyeritz RE; Division of Translational Medicine and Human Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Dec; Vol. 185 (12), pp. 3762-3769. Date of Electronic Publication: 2021 Aug 06.
Publication Type: Journal Article; Research Support, N.I.H., Extramural
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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