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
Home > A. Molecular pathology > KIAA1279
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