首页> American journal of medical genetics. Part A> A second locus for Schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1).

A second locus for Schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1).

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第一作者： Hane,Lee

第一单位： Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California.

作者： Hane,Lee ^[1] ; Lisette,Nevarez ^[2] ; Ralph S,Lachman ^[3] ; William R,Wilcox ^[4] ; Deborah,Krakow ^[5] ; Daniel H,Cohn ^[6] ; University of Washington Center for Mendelian Genomics

作者单位： Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California. ^[1] Department of Molecular, Cell and Developmental Biology, University of California Los Angeles, Los Angeles, California. ^[2] International Skeletal Dysplasia Registry, University of California Los Angeles, Los Angeles, California. ^[3] Division of Medical Genetics, Department of Human Genetics, Emory University, Decatur, Georgia. ^[4] International Skeletal Dysplasia Registry, University of California Los Angeles, Los Angeles, California.;Departments of Orthopaedic Surgery, Los Angeles, California.;Human Genetics, Los Angeles, California.;Obstetrics and Gynecology, University of California Los Angeles, Los Angeles, California. ^[5] Department of Molecular, Cell and Developmental Biology, University of California Los Angeles, Los Angeles, California.;International Skeletal Dysplasia Registry, University of California Los Angeles, Los Angeles, California.;Departments of Orthopaedic Surgery, Los Angeles, California. ^[6]