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Article

SMARCE1-related Coffin-Siris Syndrome: Case report and otolaryngologic manifestations of the syndrome.

International journal of pediatric otorhinolaryngology - 1 Jan 2020

Reed Leighton, Grady Anthony, Wilson Caleb, Stocks Rosemary

Abstract excerpt

Coffin-Siris Syndrome (CSS) is a genetic syndrome associated with multiple congenital anomalies due to mutations in the BAF-complex or SOX gene. Although well characterized overall, the subunits of the BAF-complex or SOX gene affected demonstrate phenotypic differences which are continuing to be defined. Among the variants is the SMARCE1 mutation, the least common identified genotype. This case report presents a...

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Identifiers

PMID: 31675646
DOI: 10.1016/j.ijporl.2019.109735

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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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