TP63 mutation and clefting modifier genes in an EEC syndrome family

Clinical Genetics

Volumn 66, Issue 3, 2004, Pages 217-222

  Ray, A K ^a   Marazita, M L ^b   Pathak, R ^c   Beever, C L ^c   Cooper, M E ^b   Goldstein, T ^b   Shaw, D F ^d   Field, Leigh L ^c,d,e  

^a UNIVERSITY OF TORONTO   (Canada)

^b UNIVERSITY OF PITTSBURGH   (United States)

^c UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^d UNIVERSITY OF CALGARY   (Canada)

^e UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

Cleft lip and palate; Ectodermal dysplasia; Ectrodactyly; EEC syndrome; Modifier genes; SHFM; TP63

Indexed keywords

CYTOSINE; DNA; GUANINE; THYMINE; TUMOR PROTEIN; TUMOR PROTEIN 63; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 14; CHROMOSOME 3Q; CHROMOSOME 4Q; CLEFT FACE; CLINICAL ARTICLE; EXON; GENE EXPRESSION; GENE MAPPING; GENETIC PREDISPOSITION; GENETIC SCREENING; GENOTYPE; HAND FOOT SYNDROME; HUMAN; LINKAGE ANALYSIS; MARKER GENE; MISSENSE MUTATION; MULTIPLE MALFORMATION SYNDROME; MUTATIONAL ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ABNORMALITIES, MULTIPLE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 14; CHROMOSOMES, HUMAN, PAIR 3; CHROMOSOMES, HUMAN, PAIR 4; CLEFT LIP; DNA MUTATIONAL ANALYSIS; ECTODERMAL DYSPLASIA; GENES, DOMINANT; GENOTYPE; HUMANS; LOD SCORE; MUTATION, MISSENSE; PEDIGREE; SEQUENCE ANALYSIS, DNA; SYNDROME;

EID: 4544290335     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2004.00287.x     Document Type: Article

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