The EDAR370A allele attenuates the severity of hypohidrotic ectodermal dysplasia caused by EDA gene mutation

British Journal of Dermatology

Volumn 166, Issue 3, 2012, Pages 678-681

  Cluzeau, C ^a   Hadj Rabia, S ^a,b   Bal, E ^a   Clauss, F ^c,d   Munnich, A ^a   Bodemer, C ^a,b   Headon, D ^e   Smahi, A ^a  

^a UNIVERSITÉ PARIS DESCARTES   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^d UNIVERSITÉ DE STRASBOURG   (France)

^e UNIVERSITY OF EDINBURGH   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ECTODYSPLASIN RECEPTOR; EDAR ASSOCIATED DEATH DOMAIN PROTEIN; EDAR RECEPTOR; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN;

ALLELE; AMINO ACID SUBSTITUTION; CHROMOSOME 1Q; CHROMOSOME 2Q; CHROMOSOME XQ; DISEASE SEVERITY; DNA POLYMORPHISM; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC COUNSELING; GENETIC VARIABILITY; GENOTYPE; HUMAN; HYPOHIDROTIC ECTODERMAL DYSPLASIA; LETTER; PHENOTYPE; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; X CHROMOSOME INACTIVATION;

ADULT; CHILD; CHILD, PRESCHOOL; ECTODERMAL DYSPLASIA 1, ANHIDROTIC; ECTODYSPLASINS; EDAR-ASSOCIATED DEATH DOMAIN PROTEIN; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; NF-KAPPA B; PEDIGREE; SIGNAL TRANSDUCTION;

EID: 84857632472     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2011.10620.x     Document Type: Letter

References (10)

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