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

American Journal of Medical Genetics, Part A

Volumn 164, Issue 9, 2014, Pages 2407-2411

  Li, Bing ^a   Krakow, Deborah ^a,b   Nickerson, Deborah A ^c   Bamshad, Michael J ^c,d   Chang, Yong ^b   Lachman, Ralph S ^a   Yilmaz, Alev ^e   Kayserili, Hülya ^e   Cohn, Daniel H ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF WASHINGTON   (United States)

^d UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^e ISTANBUL UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

INOSITOL POLYPHOSPHATE; MESSENGER RNA; PHOSPHATE; PROTEIN SH2; INPPL1 PROTEIN, HUMAN; PHOSPHATASE; RNA SPLICING;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE DYSPLASIA; BONE RADIOGRAPHY; CASE REPORT; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; FACE DYSMORPHIA; FAMILY HISTORY; FEMALE; FIBULA FRACTURE; GENE DELETION; GENE INSERTION; GENOMIC INSTABILITY; HOMOZYGOSITY; HUMAN; INPPL1 GENE; LONG PHILTRUM; MISSENSE MUTATION; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; OPSISMODYSPLASIA; OSSIFICATION; PLATYSPONDYLY; POINT MUTATION; PRIORITY JOURNAL; PROTEIN DOMAIN; RADIUS FRACTURE; SPINE DISEASE; ADOLESCENT; AMINO ACID SEQUENCE; CHEMISTRY; CHILD; CHONDRODYSPLASIA; GENE EXPRESSION REGULATION; GENETICS; INFANT; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PROTEIN STABILITY; RADIOGRAPHY; RNA SPLICING; SRC HOMOLOGY DOMAIN;

ADOLESCENT; AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT; MOLECULAR SEQUENCE DATA; MUTAGENESIS, INSERTIONAL; MUTATION; OSTEOCHONDRODYSPLASIAS; PHOSPHORIC MONOESTER HYDROLASES; PROTEIN STABILITY; RNA SPLICE SITES; SRC HOMOLOGY DOMAINS;

EID: 84905918032     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36640     Document Type: Article

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