Opsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1.

TitleOpsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1.
Publication TypeJournal Article
Year of Publication2014
AuthorsLi, B, Krakow, D, Nickerson, DA, Bamshad, MJ, Chang, Y, Lachman, RS, Yilmaz, A, Kayserili, H, Cohn, DH
Corporate AuthorsUniversity of Washington Center for Mendelian Genomics
JournalAm J Med Genet A
Volume164A
Issue9
Pagination2407-11
Date Published2014 Sep
ISSN1552-4833
KeywordsAdolescent, Amino Acid Sequence, Base Sequence, Child, Child, Preschool, Female, Humans, Infant, Molecular Sequence Data, Mutagenesis, Insertional, Mutation, Osteochondrodysplasias, Phosphatidylinositol-3,4,5-Trisphosphate 5-Phosphatases, Phosphoric Monoester Hydrolases, Protein Stability, Radiography, RNA Splice Sites, src Homology Domains
DOI10.1002/ajmg.a.36640
Alternate JournalAm. J. Med. Genet. A
PubMed ID24953221
PubMed Central IDPMC4134718
Grant ListR01 DE019567 / DE / NIDCR NIH HHS / United States
U54 HG006493 / HG / NHGRI NIH HHS / United States
DE019567 / DE / NIDCR NIH HHS / United States
UM1 HG006493 / HG / NHGRI NIH HHS / United States
1U54HG006493 / HG / NHGRI NIH HHS / United States
R01 AR062651 / AR / NIAMS NIH HHS / United States
AR062651 / AR / NIAMS NIH HHS / United States