title: Opsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1.
authors: Department of Molecular, Cell and Developmental Biology, University of California Los Angeles, Los Angeles, California.
authors: Bing
authors: B
authors: Li
authors: Deborah
authors: D
authors: Krakow
authors: Deborah A
authors: DA
authors: Nickerson
authors: Michael J
authors: MJ
authors: Bamshad
authors: Yong
authors: Y
authors: Chang
authors: Ralph S
authors: RS
authors: Lachman
authors: Alev
authors: A
authors: Yilmaz
authors: Hülya
authors: H
authors: Kayserili
authors: Daniel H
authors: DH
authors: Cohn
mesh_terms: D000293:Adolescent; D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D008969:Molecular Sequence Data; D016254:Mutagenesis, Insertional / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics*; D000072183:Phosphatidylinositol-3,4,5-Trisphosphate 5-Phosphatases; D010744:Phosphoric Monoester Hydrolases / Q000737:chemistry* / Q000235:genetics*; D055550:Protein Stability; D022821:RNA Splice Sites / Q000235:genetics; D011859:Radiography; D018909:src Homology Domains
chemical_list: D022821:RNA Splice Sites; D010744:Phosphoric Monoester Hydrolases; C098706:INPPL1 protein, human; D000072183:Phosphatidylinositol-3,4,5-Trisphosphate 5-Phosphatases