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A second locus for schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase‐like 1 ( INPPL1 )
Author(s) -
Lee Hane,
Nevarez Lisette,
Lachman Ralph S.,
Wilcox William R.,
Krakow Deborah,
Cohn Daniel H.
Publication year - 2015
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.37173
Subject(s) - gerontology , medicine , library science , computer science
A Second Locus for Schneckenbecken Dysplasia Identified by a Mutation in the Gene Encoding Inositol Polyphosphate Phosphatase-Like 1 (INPPL1) Hane Lee, Lisette Nevarez, Ralph S. Lachman, William R. Wilcox, Deborah Krakow, Daniel H. Cohn,* and University of Washington Center for Mendelian Genomics Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California 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 Division of Medical Genetics, Department of Human Genetics, Emory University, Decatur, Georgia University of Washington Center for Mendelian Genomics, University of Washington, Seattle, Washington Departments of Orthopaedic Surgery, Los Angeles, California Human Genetics, Los Angeles, California Obstetrics and Gynecology, University of California Los Angeles, Los Angeles, California