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Article

Natural history and life-threatening complications in Myhre syndrome and review of the literature.

European journal of pediatrics - 1 Oct 2016

Garavelli Livia, Maini Ilenia, Baccilieri Federica, Ivanovski Ivan, Pollazzon Marzia, Rosato Simonetta, Iughetti Lorenzo, Unger Sheila, Superti-Furga Andrea, Tartaglia Marco

Abstract excerpt

UNLABELLED: Myhre syndrome (OMIM 139210) is a rare developmental disorder inherited as an autosomal dominant trait and caused by a narrow spectrum of missense mutations in the SMAD4 gene. The condition features characteristic face, short stature, skeletal anomalies, muscle pseudohypertrophy, restricted joint mobility, stiff and thick skin, and variable intellectual disability. While most of the clinical features...

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Source

Identifiers

PMID: 27562837
DOI: 10.1007/s00431-016-2761-3

Genes

SMAD4

Provenance

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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