Novel human pathological mutations. Gene symbol: EDAR. Disease: Ectodermal dysplasia, hypohidrotic.
Al Balwi
Mohammed
M
1Section of Molecular Pathology and Genetics, Department of Pathology, King Abdulaziz Medical City, PO.Box 22490, MC1122, 11426, Riyadh, Saudi Arabia.
Ibrahim
Al Abdulkareem
AA
Abdulrahman
Al Swaid
AS
D003062:Codon / Q000235:genetics; D053360:Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive / Q000235:genetics*; D053339:Edar Receptor / Q000235:genetics*; D006801:Humans; D020125:Mutation, Missense
D003062:Codon; C506008:EDAR protein, human; D053339:Edar Receptor