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

2015; Wiley; Volume: 167; Issue: 10 Linguagem: Inglês

10.1002/ajmg.a.37173

1552-4833

Hane Lee, Lisette Nevarez, Ralph S. Lachman, William R. Wilcox, Deborah Krakow, Daniel H. Cohn,

Tendon Structure and Treatment

American Journal of Medical Genetics Part AVolume 167, Issue 10 p. 2470-2473 Research Letter A second locus for schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1) Hane Lee, Hane Lee Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CaliforniaSearch for more papers by this authorLisette Nevarez, Lisette Nevarez Department of Molecular, Cell and Developmental Biology, University of California Los Angeles, Los Angeles, CaliforniaSearch for more papers by this authorRalph S. Lachman, Ralph S. Lachman International Skeletal Dysplasia Registry, University of California Los Angeles, Los Angeles, CaliforniaSearch for more papers by this authorWilliam R. Wilcox, William R. Wilcox Division of Medical Genetics, Department of Human Genetics, Emory University, Decatur, GeorgiaSearch for more papers by this authorDeborah Krakow, Deborah Krakow 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, CaliforniaSearch for more papers by this authorDaniel H. Cohn, Corresponding Author Daniel H. Cohn 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 Correspondence to: Daniel H. Cohn, Ph.D., Department of Molecular, Cell and Developmental Biology, 615 Charles E. Young Dr. South, Room 550, University of California, Los Angeles, Los Angeles, CA 90095. E-mail: [email protected]Search for more papers by this authorUniversity of Washington Center for Mendelian Genomics, University of Washington Center for Mendelian Genomics University of Washington Center for Mendelian Genomics, University of Washington, Seattle, WashingtonSearch for more papers by this author Hane Lee, Hane Lee Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CaliforniaSearch for more papers by this authorLisette Nevarez, Lisette Nevarez Department of Molecular, Cell and Developmental Biology, University of California Los Angeles, Los Angeles, CaliforniaSearch for more papers by this authorRalph S. Lachman, Ralph S. Lachman International Skeletal Dysplasia Registry, University of California Los Angeles, Los Angeles, CaliforniaSearch for more papers by this authorWilliam R. Wilcox, William R. Wilcox Division of Medical Genetics, Department of Human Genetics, Emory University, Decatur, GeorgiaSearch for more papers by this authorDeborah Krakow, Deborah Krakow 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, CaliforniaSearch for more papers by this authorDaniel H. Cohn, Corresponding Author Daniel H. Cohn 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 Correspondence to: Daniel H. Cohn, Ph.D., Department of Molecular, Cell and Developmental Biology, 615 Charles E. Young Dr. South, Room 550, University of California, Los Angeles, Los Angeles, CA 90095. E-mail: [email protected]Search for more papers by this authorUniversity of Washington Center for Mendelian Genomics, University of Washington Center for Mendelian Genomics University of Washington Center for Mendelian Genomics, University of Washington, Seattle, WashingtonSearch for more papers by this author First published: 22 May 2015 https://doi.org/10.1002/ajmg.a.37173Citations: 8 Conflict of interest: None. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Citing Literature Volume167, Issue10October 2015Pages 2470-2473 RelatedInformation