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Article

Maternal transmission of a mild Coffin-Siris syndrome phenotype caused by a SOX11 missense variant.

European journal of human genetics : EJHG - 1 Jan 2022

Hanker Britta, Gillessen-Kaesbach Gabriele, Hüning Irina, Lüdecke Hermann-Josef, Wieczorek Dagmar

Abstract excerpt

Here we report for the first time on the maternal transmission of mild Coffin-Siris syndrome (CSS) caused by a SOX11 missense variant. We present two sisters with intellectual disability and muscular hypotonia born to non-consanguineous parents. Cogan ocular motor apraxia was present in both sisters. Body measurements were in a normal range. The mother and both daughters showed hypoplastic nails of the fifth...

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Identifiers

PMID: 33785884
DOI: 10.1038/s41431-021-00865-2
PMCID: PMC8738766

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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