TY  - GEN
AU  - Savasta,Salvatore
AU  - Carlone,Giorgia
AU  - Castagnoli,Riccardo
AU  - Chiappe,Francesca
AU  - Bassanese,Francesco
AU  - Piras,Roberta
AU  - Salpietro,Vincenzo
AU  - Brazzelli,Valeria
AU  - Verrotti,Alberto
AU  - Marseglia,Gian L
TI  - X-Linked Hypohidrotic Ectodermal Dysplasia: New Features and a Novel EDA Gene Mutation
SN  - 1424-859X
PY  - 2017///1020
KW  - Amino Acid Substitution
KW  - Anodontia
KW  - genetics
KW  - Child, Preschool
KW  - Codon
KW  - DNA Mutational Analysis
KW  - Ectodermal Dysplasia 1, Anhidrotic
KW  - Ectodysplasins
KW  - Female
KW  - Genes, X-Linked
KW  - Hemizygote
KW  - Heterozygote
KW  - Histidine
KW  - Humans
KW  - Hypohidrosis
KW  - Leucine
KW  - Lip
KW  - abnormalities
KW  - Male
KW  - Maxilla
KW  - Mutation, Missense
KW  - Nasal Bone
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1159/000478922
ER  -