Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Hypotrichosis 6

OMIM:607903
Mode of inheritance:Autosomal recessive
Disease classification:Congenital malformations and chromosomal abnormalities


Mutations

Gene SymbolDSG4
Reference transcriptNM_001134453.1
DNA Changec.865C>T
A.A. Changep.Arg289Stop
Exon/Intronexon 8
Mutation Typesubstitution
ReferenceZlotogorski A, Marek D, Horev L, Abu A, Ben-Amitai D, Gerad L, Ingber A, Frydman M, Reznik-Wolf H, Vardy DA, Pras E.An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis.
J Invest Dermatol. 2006 Jun;126(6):1292-6.