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Article

A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome).

Journal of medical genetics - 1 Jun 1999

Brooks A S, Breuning M H, Osinga J, vd Smagt J J, Catsman C E, Buys C H, Meijers C, Hofstra R M

Abstract excerpt

Hirschsprung disease, mental retardation, microcephaly, and specific craniofacial dysmorphism were observed in three children from a large, consanguineous, Moroccan family. A fourth child showed similar clinical features, with the exception of Hirschsprung disease. The association of these abnormalities in these children represents the Goldberg-Shprintzen syndrome (OMIM 235730). Mutation scanning of genes...

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Source

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Identifiers

PMID: 10874640
PMCID: PMC1734390

Genes

EDNRB
EDN3
GDNF
RET

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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