Goldberg-Shprintzen megacolon syndrome

*Gene map locus 10q22.1

GOSHS

[Clinical features: microcephaly; mental retardation; distinctive face; Hirschsprung disease]

[Inheritance: autosomal recessive]


Homozygous Nonsense Mutations in KIAA1279 Are Associated with Malformations of the Central and Enteric Nervous Systems	A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome)
American Journal of Human Genetics	Journal of Medical Genetics

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