Myhre and LAPS syndromes: clinical and molecular review of 32 patients.

doi:10.1038/ejhg.2013.288

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Article

Myhre and LAPS syndromes: clinical and molecular review of 32 patients.

European journal of human genetics : EJHG - 1 Nov 2014

Michot Caroline, Le Goff Carine, Mahaut Clémentine, Afenjar Alexandra, Brooks Alice S, Campeau Philippe M, Destree Anne, Di Rocco Maja, Donnai Dian, Hennekam Raoul, Heron Delphine, Jacquemont Sébastien, Kannu Peter, Lin Angela E, Manouvrier-Hanu Sylvie, Mansour Sahar, Marlin Sandrine, McGowan Ruth, Murphy Helen, Raas-Rothschild Annick, Rio Marlène, Simon Marleen, Stolte-Dijkstra Irene, Stone James R, Sznajer Yves, Tolmie John, Touraine Renaud, van den Ende Jenneke, Van der Aa Nathalie, van Essen Ton, Verloes Alain, Munnich Arnold, Cormier-Daire Valérie

Abstract excerpt

Myhre syndrome is characterized by short stature, brachydactyly, facial features, pseudomuscular hypertrophy, joint limitation and hearing loss. We identified SMAD4 mutations as the cause of Myhre syndrome. SMAD4 mutations have also been identified in laryngotracheal stenosis, arthropathy, prognathism and short stature syndrome (LAPS). This study aimed to review the features of Myhre and LAPS patients to define...

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Identifiers

PMID: 24424121
DOI: 10.1038/ejhg.2013.288
PMCID: PMC4200423

Genes

SMAD4

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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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