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Article

Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosis.

American journal of medical genetics. Part A - 1 Dec 2015

Gossai Nathan, Biegel Jaclyn A, Messiaen Ludwine, Berry Susan A, Moertel Christopher L

Abstract excerpt

We report a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris Syndrome (CSS), and schwannomatosis. CSS is a rare congenital syndrome with characteristic clinical findings. This thirty-three-year-old man was diagnosed early in life with the constellation of moderate intellectual disability, hypotonia, mild microcephaly, coarse facies, wide mouth with full lips, hypoplasia of the digits, and...

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Source

Identifiers

PMID: 26364901
DOI: 10.1002/ajmg.a.37356

Genes

SMARCB1
SMARCA4
SMARCE1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosis.PMID 26364901Read ↗

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