Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies.

doi:10.1002/ajmg.a.38684

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Article

Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies.

American journal of medical genetics. Part A - 1 May 2018

Alby Caroline, Boutaud Lucile, Bessières Bettina, Serre Valérie, Rio Marlene, Cormier-Daire Valerie, de Oliveira Judith, Ichkou Amale, Mouthon Linda, Gordon Christopher T, Bonnière Maryse, Mechler Charlotte, Nitschke Patrick, Bole Christine, Lyonnet Stanislas, Bahi-Buisson Nadia, Boddaert Nathalie, Colleaux Laurence, Roth Philippe, Ville Yves, Vekemans Michel, Encha-Razavi Féréchté, Attié-Bitach Tania, Thomas Sophie

Abstract excerpt

Corpus callosum (CC) is the major brain commissure connecting homologous areas of cerebral hemispheres. CC anomalies (CCAs) are the most frequent brain anomalies leading to variable neurodevelopmental outcomes making genetic counseling difficult in the absence of a known etiology that might inform the prognosis. Here, we used whole exome sequencing, and a targeted capture panel of syndromic CCA known causal and...

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Identifiers

PMID: 29681083
DOI: 10.1002/ajmg.a.38684

Genes

ZBTB20

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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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