A rare case of hypohidrotic ectodermal dysplasia caused by compound heterozygous mutations in the EDAR gene

Journal of Investigative Dermatology

Volumn 123, Issue 4, 2004, Pages 649-655

  Shimomura, Yutaka ^a   Sato, Nobuyuki ^a   Miyashita, Akinori ^b   Hashimoto, Tsuyoshi ^a   Ito, Masaaki ^a   Kuwano, Ryozo ^b  

^a NIIGATA UNIVERSITY   (Japan)

^b NIIGATA UNIVERSITY   (Japan)

Author keywords

Compound heterozygous mutations; Death domain; EDAR gene; Hypohidrotic ectodermal dysplasia

Indexed keywords

ADULT; ALLELE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CELL CULTURE; DEATH DOMAIN; EDAR GENE; EDARADD GENE; EXON; FEMALE; GENE; GENE EXPRESSION; GENE MUTATION; HETEROZYGOTE; HUMAN; HYPOHIDROTIC ECTODERMAL DYSPLASIA; INTRON; MUTATIONAL ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; X CHROMOSOME RECESSIVE INHERITANCE;

EID: 4644360646     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.0022-202X.2004.23405.x     Document Type: Article

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