首页> American journal of medical genetics. Part A> Novel X-linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R.

Novel X-linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R.

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第一作者： Paldeep Singh,Atwal

第一单位： Department of Pediatrics, Division of Medical Genetics, Stanford University, Stanford, California.;Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas.;Mayo Clinic, Center for Individualized Medicine FL, Clinical Genomics, Jacksonville, Florida.

作者： Paldeep Singh,Atwal ^[1] ; Sophie,Blease ^[2] ; Alicia,Braxton ^[3] ; Julia,Graves ^[4] ; Weimin,He ^[3] ; Richard,Person ^[3] ; Leah,Slattery ^[2] ; Jonathan Adam,Bernstein ^[2] ; Louanne,Hudgins ^[2]

作者单位： Department of Pediatrics, Division of Medical Genetics, Stanford University, Stanford, California.;Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas.;Mayo Clinic, Center for Individualized Medicine FL, Clinical Genomics, Jacksonville, Florida. ^[1] Department of Pediatrics, Division of Medical Genetics, Stanford University, Stanford, California. ^[2] Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas. ^[3] Private Practice Oakland, Oakland, California. ^[4]

关键词 FLNA G1576R cardiac valvulopathy joint hypomobility keloid scar