Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations.

doi:10.1038/s41431-024-01664-1

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Article

Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations.

European journal of human genetics : EJHG - 1 Sept 2024

Vanbelleghem Eva, Van Damme Tim, Beyens Aude, Symoens Sofie, Claes Kathleen, De Backer Julie, Meerschaut Ilse, Vanommeslaeghe Floris, Delanghe Sigurd E, van den Ende Jenneke, Beyltjens Tessi, Scimone Eleanor R, Lindsay Mark E, Schimmenti Lisa A, Hinze Alicia M, Dunn Emily, Gomez-Ospina Natalia, Vandernoot Isabelle, Delguste Thomas, Coppens Sandra, Cormier-Daire Valérie, Tartaglia Marco, Garavelli Livia, Shieh Joseph, Demir Şenol, Arslan Ateş Esra, Zenker Martin, Rohanizadegan Mersedeh, Rivera-Cruz Greysha, Douzgou Sofia, Lin Angela E, Callewaert Bert

Abstract excerpt

Myhre syndrome (MS, MIM 139210) is a rare multisystemic disorder caused by recurrent pathogenic missense variants in SMAD4. The clinical features have been mainly documented in childhood and comprise variable neurocognitive development, recognizable craniofacial features, a short stature with a pseudo-muscular build, hearing loss, thickened skin, joint limitations, diverse cardiovascular and airway...

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Identifiers

PMID: 38997468
DOI: 10.1038/s41431-024-01664-1
PMCID: PMC11369149

Genes

SMAD4

Provenance

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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