Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome: Report of a child with phenotypic overlap with ulnar-mammary syndrome and a new mutation in TP63

American Journal of Medical Genetics

Volumn 138 A, Issue 2, 2005, Pages 146-149

  Slavotinek, Anne M ^a   Tanaka, June ^b   Winder, Alison ^c   Vargervik, Karin ^c   Haggstrom, Anita ^a   Bamshad, Michael ^d  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b CHILDREN S HOSPITAL OAKLAND   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

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

Author keywords

ADULT syndrome; Ectodermal dysplasia; TP63 gene; Ulnar mammary syndrome

Indexed keywords

ACRODERMATOUNGUAL LACRIMAL TOOTH SYNDROME; ADOLESCENT; AMINO ACID SUBSTITUTION; ANUS ATRESIA; ARTICLE; ATHELIA; AUTOSOMAL DOMINANT DISORDER; BRACHYDACTYLY; CAMPTODACTYLY; CASE REPORT; CHROMOSOME 3Q; GENE; GENE MUTATION; HUMAN; LACRIMAL DUCT OCCLUSION; LENTIGO; MALE; MISSENSE MUTATION; NAIL DYSTROPHY; OLIGODONTIA; PHENOTYPE; PREDICTION; PRIORITY JOURNAL; SCANTY HAIR; SINGLE NUCLEOTIDE POLYMORPHISM; SWEATING; SYNDROME DELINEATION; TP63 GENE; ULNAR MAMMARY SYNDROME;

ABNORMALITIES, MULTIPLE; BASE SEQUENCE; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; ECTODERMAL DYSPLASIA; FEMALE; FINGERS; GENES, TUMOR SUPPRESSOR; HUMANS; LACRIMAL DUCT OBSTRUCTION; MALE; MAMMARY GLANDS, HUMAN; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; PHOSPHOPROTEINS; SYNDROME; TOOTH ABNORMALITIES; TRANS-ACTIVATORS; TUMOR SUPPRESSOR PROTEINS; ULNA;

EID: 25644445356     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30900     Document Type: Article

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