Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia

European Journal of Human Genetics

Volumn 16, Issue 6, 2008, Pages 673-679

  van der Hout, Annemarie H ^a   Oudesluijs, Grétel G ^a,c   Venema, Andrea ^a   Verheij, Joke B G M ^a   Mol, Bart G J ^a   Rump, Patrick ^a   Brunner, Han G ^b   Vos, Yvonne J ^a   van Essen, Anthonie J ^a  

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

EDAR RECEPTOR;

ANHIDROSIS; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CLINICAL FEATURE; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HYPOHIDROTIC ECTODERMAL DYSPLASIA; MALE; MISSENSE MUTATION; NONSENSE MUTATION; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; SCANTY HAIR; STOP CODON; TOOTH DISEASE; X CHROMOSOME LINKAGE;

CHILD, PRESCHOOL; ECTODERMAL DYSPLASIA; EDAR RECEPTOR; FEMALE; GENOTYPE; HUMANS; INFANT; MALE; MUTATION; PHENOTYPE;

EID: 44449142932     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5202012     Document Type: Article

References (10)

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