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Article

Recurrent partial rhombencephalosynapsis and holoprosencephaly in siblings with a mutation of ZIC2.

American journal of medical genetics. Part A - 1 Jul 2011

Ramocki Melissa B, Scaglia Fernando, Stankiewicz Pawel, Belmont John W, Jones Jeremy Y, Clark Gary D

Abstract excerpt

Rhombencephalosynapsis (RES) is a rare congenital brain malformation typically identified by magnetic resonance imaging and characterized by fusion of the cerebellar hemispheres and dentate nuclei and vermian agenesis or hypogenesis. Although RES is frequently found in conjunction with other brain malformations and/or congenital anomalies, no specific molecular etiology has been discovered to date and no animal...

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Source

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Identifiers

PMID: 21638761
DOI: 10.1002/ajmg.a.34029
PMCID: PMC3121908

Genes

ZIC2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Recurrent partial rhombencephalosynapsis and holoprosencephaly in siblings with a mutation of ZIC2.PMID 21638761Read ↗

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Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patientsSemantic proximity Read ↗

Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals.Semantic proximity Read ↗

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