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Article

Gain-of-function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome.

American journal of medical genetics. Part A - 1 Feb 2020

Lin Angela E, Alali Abdulrazak, Starr Lois J, Shah Nidhi, Beavis Anna, Pereira Elaine M, Lindsay Mark E, Klugman Susan

Abstract excerpt

Myhre syndrome is an increasingly diagnosed rare syndrome that is caused by one of two specific heterozygous gain-of-function pathogenic variants in SMAD4. The phenotype includes short stature, characteristic facial appearance, hearing loss, laryngotracheal stenosis, arthritis, skeletal abnormalities, learning and social challenges, distinctive cardiovascular defects, and a striking fibroproliferative response in...

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Identifiers

PMID: 31837202
DOI: 10.1002/ajmg.a.61430

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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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