Mutation in SAM domain of TP63 is associated with nonsyndromic cleft lip and palate and cleft palate

American Journal of Medical Genetics, Part A

Volumn 155, Issue 6, 2011, Pages 1432-1436

  Kantaputra, Piranit N ^a,b   Malaivijitnond, Sutti ^c   Vieira, Alexandre R ^d   Heering, Jan ^e   Dötsch, Volker ^e   Khankasikum, Theerapong ^f   Sripathomsawat, Warissara ^a,b  

^a CHIANG MAI UNIVERSITY   (Thailand)

^b Dentaland Clinic   (Thailand)

^c Nan Hospital   (Thailand)

^d UNIVERSITY OF PITTSBURGH   (United States)

^e GOETHE UNIVERSITY   (Germany)

^f Dental Department of Mae Sod Hospital   (Thailand)

Author keywords

Ankyloblepharon ectodermal dysplasia cleft lip palate syndrome; EEC syndrome; Mutation; Orofacial cleft; Rapp Hodgkin syndrome; SAM domain; Sterile alpha motif; Sumoylation; TP63

Indexed keywords

AMINO TERMINAL SEQUENCE; ARTICLE; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CHILD; CLEFT LIP PALATE; CLEFT PALATE; EXON; FACE DYSMORPHIA; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; INFANT; INTRON; MALE; MUTANT; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DOMAIN; STERILE ALPHA MOTIF DOMAIN; TP63 GENE;

BASE SEQUENCE; CHILD, PRESCHOOL; CLEFT LIP; CLEFT PALATE; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; THAILAND; TRANSCRIPTION FACTORS; TUMOR SUPPRESSOR PROTEINS;

EID: 79956216387     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34011     Document Type: Article

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