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Article

Myhre syndrome is caused by dominant-negative dysregulation of SMAD4 and other co-factors.

Differentiation; research in biological diversity - 1 Jan 2000

Alankarage Dimuthu, Enriquez Annabelle, Steiner Robert D, Raggio Cathy, Higgins Megan, Milnes Di, Humphreys David T, Duncan Emma L, Sparrow Duncan B, Giampietro Philip F, Chapman Gavin, Dunwoodie Sally L

Abstract excerpt

Myhre syndrome is a connective tissue disorder characterized by congenital cardiovascular, craniofacial, respiratory, skeletal, and cutaneous anomalies as well as intellectual disability and progressive fibrosis. It is caused by germline variants in the transcriptional co-regulator SMAD4 that localize at two positions within the SMAD4 protein, I500 and R496, with I500 V/T/M variants more commonly identified in...

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Identifiers

PMID: 36194927
DOI: 10.1016/j.diff.2022.09.002
PMCID: PMC10442510

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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