We have studied an autosomal dominant hypohidrotic ectodermal dysplasia in 38 individuals over six generations in one family. Thirty-two affected individuals in four generations are still living. Questionnaire responses were received from 21 of the affected relatives and some of the individuals were
A compound heterozygous mutation in theEDARgene in a Spanish family with autosomal recessive hypohidrotic ectodermal dysplasia
✍ Scribed by M. R. Moya-Quiles; M. J. Ballesta-Martínez; V. López-González; G. Glover; E. Guillén-Navarro
- Publisher
- Springer-Verlag
- Year
- 2009
- Tongue
- English
- Weight
- 300 KB
- Volume
- 302
- Category
- Article
- ISSN
- 0340-3696
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