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A second locus for schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase‐like 1 (INPPL1)
Authors:Hane Lee  Lisette Nevarez  Ralph S. Lachman  William R. Wilcox  Deborah Krakow  Daniel H. Cohn
Affiliation:1. Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California;2. Department of Molecular, Cell and Developmental Biology, University of California Los Angeles, Los Angeles, California;3. International Skeletal Dysplasia Registry, University of California Los Angeles, Los Angeles, California;4. Division of Medical Genetics, Department of Human Genetics, Emory University, Decatur, Georgia;5. Departments of Orthopaedic Surgery, Los Angeles, California;6. Human Genetics, Los Angeles, California;7. Obstetrics and Gynecology, University of California Los Angeles, Los Angeles, California
Abstract:
Keywords:
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