Goldberg–Shpritzen megacolon syndrome

Related Overviews


'Goldberg–Shpritzen megacolon syndrome' can also refer to...


More Like This

Show all results sharing this subject:

  • Medicine and Health


Show Summary Details

Quick Reference

An autosomal recessive trait with complex developmental abnormalities, often associated with Hirschsprung's disease and caused by mutation in the KIAA1279 gene that encodes a 621-aa protein expressed in different parts of the adult central nervous system.

Subjects: Medicine and Health.

Reference entries

Users without a subscription are not able to see the full content. Please, subscribe or login to access all content.