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Article

Coffin-Siris syndrome and cardiac anomaly with a novel SOX11 mutation.

Congenital anomalies - 1 May 2018

Okamoto Nobuhiko, Ehara Eiji, Tsurusaki Yoshinori, Miyake Noriko, Matsumoto Naomichi

Abstract excerpt

Coffin-Siris syndrome (CSS) is characterized by growth deficiency, intellectual disability, microcephaly, dysmorphic features, and hypoplastic nails of the fifth fingers and/or toes. Variants in the genes encoding subunits of the BAF complex as well as in SOX11 encoding the transcriptional factor under the control of BAF complex are associated with CSS. We report a new patient with a novel SOX11 mutation. He...

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Source

Identifiers

PMID: 28787104
DOI: 10.1111/cga.12242

Genes

SOX11

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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