A novel EDA gene mutation in a Spanish family with X-linked hypohidrotic ectodermal dysplasia;Una nueva mutación en el gen EDA en una familia española con displasia ectodérmica hipohidrótica ligada al cromosoma X

Actas Dermo-Sifiliograficas

Volumn 102, Issue 9, 2011, Pages 722-725

  Canueto J ^a   Zafra Cobo, M I ^a   Ciria, S ^b   Unamuno, P ^a   Gonzalez Sarmiento R ^b,c  

^a HOSPITAL UNIVERSITARIO DE SALAMANCA   (Spain)

^b UNIVERSITY OF SALAMANCA   (Spain)

^c UNIVERSITY OF SALAMANCA   (Spain)

Author keywords

EDA; Novel mutations; X linked hypohidrotic ectodermal dysplasia

Indexed keywords

ECTODYSPLASIN A; GENOMIC DNA;

ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; DNA EXTRACTION; EXON; FEMALE; FRAMESHIFT MUTATION; GENE AMPLIFICATION; GENE IDENTIFICATION; GENE LOCATION; GENE MAPPING; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; HETEROZYGOTE; HUMAN; HYPERPIGMENTATION; HYPOHIDROTIC ECTODERMAL DYSPLASIA; PHENOTYPE; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; SEQUENCE ANALYSIS; STOP CODON; X CHROMOSOME LINKED DISORDER; X LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA;

ADULT; CHILD, PRESCHOOL; ECTODERMAL DYSPLASIA; ECTODYSPLASINS; FEMALE; GENETIC DISEASES, X-LINKED; HUMANS; MUTATION; PEDIGREE; PHENOTYPE;

EID: 80054704812     PISSN: 00017310     EISSN: 15782190     Source Type: Journal    
DOI: 10.1016/j.ad.2011.04.004     Document Type: Article

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