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Article

Myhre syndrome: Clinical features and restrictive cardiopulmonary complications.

American journal of medical genetics. Part A - 1 Dec 2015

Starr Lois J, Grange Dorothy K, Delaney Jeffrey W, Yetman Anji T, Hammel James M, Sanmann Jennifer N, Perry Deborah A, Schaefer G Bradley, Olney Ann Haskins

Abstract excerpt

Myhre syndrome, a connective tissue disorder characterized by deafness, restricted joint movement, compact body habitus, and distinctive craniofacial and skeletal features, is caused by heterozygous mutations in SMAD4. Cardiac manifestations reported to date have included patent ductus arteriosus, septal defects, aortic coarctation and pericarditis. We present five previously unreported patients with Myhre...

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Source

Identifiers

PMID: 26420300
DOI: 10.1002/ajmg.a.37273

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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Myhre syndrome: Clinical features and restrictive cardiopulmonary complications.PMID 26420300Read ↗

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