A novel p63 sterile alpha motif (SAM) domain mutation in a Japanese patient with ankyloblepharon, ectodermal defects and cleft lip and palate (AEC) syndrome without ankyloblepharon

British Journal of Dermatology

Volumn 149, Issue 2, 2003, Pages 395-399

  Tsutsui, K ^a   Asai, Y ^a   Fujimoto, A ^b   Yamamoto, M ^a   Kubo, M ^a   Hatta, Naohito ^b  

^a ISHIKAWA PREFECTURAL CENTRAL HOSPITAL   (Japan)

^b KANAZAWA UNIV SCHOOL OF MEDICINE   (Japan)

Author keywords

Ectodermal dysplasia; Genetic disease; Hay Wells syndrome

Indexed keywords

PROTEIN P16; STEROID;

ARTICLE; CASE REPORT; CLEFT LIP; CLEFT PALATE; ECTODERMAL DYSPLASIA; FEMALE; GENE INSERTION; GENE MUTATION; GENETIC CODE; GESTATIONAL AGE; GRANULAR CELL; HETEROZYGOSITY; HUMAN; IMMUNOHISTOCHEMISTRY; INFANT; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; RASH;

ABNORMALITIES, MULTIPLE; CLEFT LIP; CLEFT PALATE; DNA-BINDING PROTEINS; ECTODERMAL DYSPLASIA; EYELIDS; FEMALE; GENES, TUMOR SUPPRESSOR; HUMANS; INFANT, NEWBORN; MEMBRANE PROTEINS; MUTATION; PHOSPHOPROTEINS; SYNDROME; TRANS-ACTIVATORS; TUMOR SUPPRESSOR PROTEINS;

EID: 0042413492     PISSN: 00070963     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2133.2003.05423.x     Document Type: Article

References (8)

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