Goldberg-Shprintzen megacolon syndrome
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Contents
1
Pathology
2
Genetics
3
Clinical manifestations
4
More general terms
5
References
Pathology
microcephaly
mental retardation
facial
dysmorphism
Genetics
associated with defects in
KIAA1279
gene
Clinical manifestations
phenotypes
related to
Hirschsprung disease
More general terms
genetic syndrome (multisystem disorder)
References
↑
UniProt
http://www.uniprot.org/uniprot/Q96EK5.html
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