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Article

Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome.

European journal of human genetics : EJHG - 1 Jan 2013

Baas Annette F, Gabbett Michael, Rimac Milan, Kansikas Minttu, Raphael Martine, Nievelstein Rutger Aj, Nicholls Wayne, Offerhaus Johan, Bodmer Danielle, Wernstedt Annekatrin, Krabichler Birgit, Strasser Ulrich, Nyström Minna, Zschocke Johannes, Robertson Stephen P, van Haelst Mieke M, Wimmer Katharina

Abstract excerpt

Constitutional mismatch repair deficiency (CMMR-D) syndrome is a rare inherited childhood cancer predisposition caused by biallelic germline mutations in one of the four mismatch repair (MMR)-genes, MLH1, MSH2, MSH6 or PMS2. Owing to a wide tumor spectrum, the lack of specific clinical features a...

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Source

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Identifiers

PMID: 22692065
DOI: 10.1038/ejhg.2012.117
PMCID: PMC3522206

Genes

MLH1
MSH2
MSH6
PMS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22692065-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome.PMID 22692065Read ↗

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