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

• Type of Material: Article
• Authors: William Wilcox, Emory University; H Lee, University of California Los Angeles; L Nevarez, University of California Los Angeles; RS Lachman, University of California Los Angeles; D Krakow, University of California Los Angeles; DH Cohn, University of California Los Angeles
• Language: English
• Date: 2015-10-01
• Publisher: Wiley
• Publication Version: Author Accepted Manuscript (After Peer Review)
• Copyright Statement: © 2015 Wiley Periodicals, Inc.
• Final Published Version (URL): http://dx.doi.org/10.1002/ajmg.a.37173
• Title of Journal or Parent Work: American Journal of Medical Genetics Part A
• ISSN: 1552-4825
• Volume: 167
• Issue: 10
• Start Page: 2470
• End Page: 2473
• Grant/Funding Information: This work was supported by NIH grants RO1 DE019567 and R01 AR062651 to DHC, RO1 AR066124 to DK and 1U54 HG006493 to Drs. Debbie Nickerson, Jay Shendure, and Michael Bamshad.; We also thank the March of Dimes Birth Defects Foundation, the Joseph Drown Foundation and the Orthopaedic Institute for Children/Orthopaedic Hospital Research Center for their support.; Support was also provided by NIH/National Center for Advancing Translational Science (NCATS) UCLA CTSI Grant Number UL1TR000124.
• Keywords: Genetics & Heredity; Science & Technology; Life Sciences & Biomedicine
• Research Categories: Health Sciences, General; Biology, Genetics