title: A novel EDARADD 5'-splice site mutation resulting in activation of two alternate cryptic 5'-splice sites causes autosomal recessive Hypohidrotic Ectodermal Dysplasia.
authors.affiliation: Laboratory of Molecular Oncology, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.
authors.forename: Ajay K
authors.initials: AK
authors.lastname: Chaudhary
authors.affiliation: Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.
authors.forename: Katta M
authors.initials: KM
authors.lastname: Girisha
authors.affiliation: Laboratory of Molecular Oncology, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.
authors.forename: Murali D
authors.initials: MD
authors.lastname: Bashyam
mesh_terms: D053360:Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D012326:RNA Splicing