Detalhe da pesquisa
1.
A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family.
Genet Res (Camb)
; 2023: 9999660, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37829154
2.
Recurrent mutations in functionally-related EDA and EDAR genes underlie X-linked isolated hypodontia and autosomal recessive hypohidrotic ectodermal dysplasia.
Arch Dermatol Res
; 301(8): 625-9, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19551394