Home > A. Molecular pathology > KIAA1279
KIAA1279
MIM.609367 10q22.1
Saturday 25 June 2005
KIAA1279 at 10q22.1 encodes a protein with two tetratrico peptide repeats.
Pathology
germline mutations of KIAA1279 in Goldberg-Shprintzen syndrome (GOSHS)
- microcephaly, mental retardation, Hirschsprung disease, bilateral generalized polymicogyria
