title: A novel large deletion that encompasses EDA and the downstream gene AWAT2 causes X-linked hypohidrotic/anhidrotic ectodermal dysplasia.
authors.affiliation: Laboratory of Molecular Oncology, Centre for DNA Fingerprinting and Diagnostics (CDFD), Hyderabad, India.
authors.forename: Ajay K
authors.initials: AK
authors.lastname: Chaudhary
authors.affiliation: Department of Paediatrics, SAT Hospital, Medical College, Trivandrum, India.
authors.forename: V H
authors.initials: VH
authors.lastname: Sankar
authors.affiliation: Laboratory of Molecular Oncology, Centre for DNA Fingerprinting and Diagnostics (CDFD), Hyderabad, India. Electronic address: bashyam@cdfd.org.in.
authors.forename: Murali D
authors.initials: MD
authors.lastname: Bashyam
mesh_terms: D020413:3' Untranslated Regions; D020121:5' Untranslated Regions; D000217:Acyltransferases / Q000235:genetics*; D003593:Cytoplasm / Q000378:metabolism; D053358:Ectodermal Dysplasia 1, Anhidrotic / Q000235:genetics*; D053331:Ectodysplasins / Q000235:genetics*; D053339:Edar Receptor / Q000378:metabolism; D005192:Family Health; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007007:Hypohidrosis / Q000235:genetics*; D007194:India; D007223:Infant; D008297:Male; D009154:Mutation; D016328:NF-kappa B / Q000378:metabolism; D010375:Pedigree; D011995:Recombination, Genetic; D017384:Sequence Deletion; D015398:Signal Transduction
chemical_list: D020413:3' Untranslated Regions; D020121:5' Untranslated Regions; C506018:EDA protein, human; D053331:Ectodysplasins; D053339:Edar Receptor; D016328:NF-kappa B; D000217:Acyltransferases; C500796:AWAT2 protein, human