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

TitleA second locus for Schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1).
Publication TypeJournal Article
Year of Publication2015
AuthorsLee, H, Nevarez, L, Lachman, RS, Wilcox, WR, Krakow, D, Cohn, DH
Corporate AuthorsUniversity of Washington Center for Mendelian Genomics
JournalAm J Med Genet A
Volume167A
Issue10
Pagination2470-3
Date Published2015 Oct
ISSN1552-4833
KeywordsExome, Gene Expression, Genetic Loci, Gestational Age, Homozygote, Humans, Hydrops Fetalis, Infant, Newborn, Male, Mutation, Osteochondrodysplasias, Phosphatidylinositol-3,4,5-Trisphosphate 5-Phosphatases, Phosphoric Monoester Hydrolases, Stillbirth
DOI10.1002/ajmg.a.37173
Alternate JournalAm. J. Med. Genet. A
PubMed ID25997753
PubMed Central IDPMC5036935
Grant ListR01 DE019567 / DE / NIDCR NIH HHS / United States
U54 HG006493 / HG / NHGRI NIH HHS / United States
UL1TR000124 / TR / NCATS NIH HHS / United States
UL1 TR000124 / TR / NCATS NIH HHS / United States
UM1 HG006493 / HG / NHGRI NIH HHS / United States
R01 AR066124 / AR / NIAMS NIH HHS / United States
R01 AR062651 / AR / NIAMS NIH HHS / United States