Identical mutation in SH3BP2 gene causes clinical phenotypes with different severity in mother and daughter - Case report

Molecular Syndromology

Volumn 1, Issue 2, 2010, Pages 87-90

  Preda, L ^a   Dinca, O ^a   Bucur, A ^a   Dragomir, C ^a   Severin, E ^a  

^a CAROL DAVILA UNIVERSITY OF MEDICINE AND PHARMACY   (Romania)

Author keywords

Cherubism; Dental abnormalities; Enlarged jaw; SH3BP2

Indexed keywords

BINDING PROTEIN; SH3 DOMAIN BINDING PROTEIN 2 PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BIOCHEMISTRY; CASE REPORT; CAUCASIAN; CHILD; CLINICAL EXAMINATION; CLINICAL FEATURE; DAUGHTER; DISEASE SEVERITY; DNA DETERMINATION; DYSPHAGIA; EXON; FEMALE; FIBROUS DYSPLASIA; FOLLOW UP; GENE MUTATION; GENE SEQUENCE; HEMATOLOGY; HISTOLOGY; HUMAN; MANDIBLE; MOTHER; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RADIODIAGNOSIS; SCHOOL CHILD; SPEECH DISORDER;

EID: 79952150280     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000314268     Document Type: Article

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