Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubism

American Journal of Medical Genetics

Volumn 121 A, Issue 1, 2003, Pages 37-40

  Lo, Bryan ^a   Faiyaz Ul Haque, M ^a   Kennedy, S ^a   Aviv, R ^a   Tsui, L C ^a   Teebi, Ahmad S ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

Autosomal dominant; Cherubism; Loss of bone in jaws; SH3BP2 mutation hotspot

Indexed keywords

CARRIER PROTEIN; SH3BP2 PROTEIN, HUMAN;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CHILD; CHROMOSOME 4; DNA SEQUENCE; DOMINANT GENE; FEMALE; FIBROUS DYSPLASIA; GENE C ABL; GENE DISRUPTION; GENE MUTATION; GENETICS; HEAD; HISTOPATHOLOGY; HUMAN; MISSENSE MUTATION; MULTIGENE FAMILY; NUCLEOTIDE SEQUENCE; ONCOGENE; PATHOLOGY; PEDIGREE; PENETRANCE; PHASE TRANSITION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; REMISSION;

EID: 0041321493     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20226     Document Type: Article

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