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The novel EDAR p.L397H missense mutation causes autosomal dominant hypohidrotic ectodermal dysplasia.
Chaudhary, A K; Mohapatra, R; Nagarajaram, H A; Ranganath, P; Dalal, A; Dutta, A; Danda, S; Girisha, K M; Bashyam, M D.
Affiliation
  • Chaudhary AK; Laboratory of Molecular Oncology, Hyderabad, India.
  • Mohapatra R; Laboratory of Computational biology, Hyderabad, India.
  • Nagarajaram HA; Laboratory of Computational biology, Hyderabad, India.
  • Ranganath P; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.
  • Dalal A; Nizam's Institute of Medical Sciences, Hyderabad, India.
  • Dutta A; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.
  • Danda S; Christian Medical College, Vellore, India.
  • Girisha KM; Christian Medical College, Vellore, India.
  • Bashyam MD; Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.
J Eur Acad Dermatol Venereol ; 31(1): e17-e20, 2017 Jan.
Article in En | MEDLINE | ID: mdl-27168349

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Mutation, Missense / Ectodermal Dysplasia 1, Anhidrotic Type of study: Etiology_studies Limits: Child / Child, preschool / Female / Humans / Male Language: En Journal: J Eur Acad Dermatol Venereol Journal subject: DERMATOLOGIA / DOENCAS SEXUALMENTE TRANSMISSIVEIS Year: 2017 Document type: Article Affiliation country: India

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Mutation, Missense / Ectodermal Dysplasia 1, Anhidrotic Type of study: Etiology_studies Limits: Child / Child, preschool / Female / Humans / Male Language: En Journal: J Eur Acad Dermatol Venereol Journal subject: DERMATOLOGIA / DOENCAS SEXUALMENTE TRANSMISSIVEIS Year: 2017 Document type: Article Affiliation country: India