X-Linked Hypohidrotic Ectodermal Dysplasia: New Features and a Novel EDA Gene Mutation. [electronic resource]
Producer: 20171020Description: 111-116 p. digitalISSN:- 1424-859X
- 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
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Publication Type: Case Reports; Journal Article
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