X-Linked Hypohidrotic Ectodermal Dysplasia: New Features and a Novel EDA Gene Mutation.
Savasta, Salvatore
X-Linked Hypohidrotic Ectodermal Dysplasia: New Features and a Novel EDA Gene Mutation. [electronic resource] - Cytogenetic and genome research 2017 - 111-116 p. digital
Publication Type: Case Reports; Journal Article
1424-859X
10.1159/000478922 doi
Amino Acid Substitution
Anodontia--genetics
Child, Preschool
Codon
DNA Mutational Analysis
Ectodermal Dysplasia 1, Anhidrotic--genetics
Ectodysplasins--genetics
Female
Genes, X-Linked
Hemizygote
Heterozygote
Histidine--genetics
Humans
Hypohidrosis--genetics
Leucine--genetics
Lip--abnormalities
Male
Maxilla--abnormalities
Mutation, Missense
Nasal Bone--abnormalities
X-Linked Hypohidrotic Ectodermal Dysplasia: New Features and a Novel EDA Gene Mutation. [electronic resource] - Cytogenetic and genome research 2017 - 111-116 p. digital
Publication Type: Case Reports; Journal Article
1424-859X
10.1159/000478922 doi
Amino Acid Substitution
Anodontia--genetics
Child, Preschool
Codon
DNA Mutational Analysis
Ectodermal Dysplasia 1, Anhidrotic--genetics
Ectodysplasins--genetics
Female
Genes, X-Linked
Hemizygote
Heterozygote
Histidine--genetics
Humans
Hypohidrosis--genetics
Leucine--genetics
Lip--abnormalities
Male
Maxilla--abnormalities
Mutation, Missense
Nasal Bone--abnormalities