Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Myhre syndrome.

Clinical genetics - 1 Jun 2014

Le Goff C, Michot C, Cormier-Daire V

Abstract excerpt

Myhre syndrome (MS) is a developmental disorder characterized by typical facial dysmorphism, thickened skin, joint limitation and muscular pseudohypertrophy. Other features include brachydactyly, short stature, intellectual deficiency with behavioral problems and deafness. We identified SMAD4 as the gene responsible for MS. The identification of SMAD4 mutations in Laryngotracheal stenosis, Arthropathy,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cryptorchidism
Share to Facies
Share to Genetic Heterogeneity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Growth Disorders

Share to Hand Deformities, Congenital

Share to Hypertrophy

Share to Joint Diseases

Share to Smad4 Protein

Source

Identifiers

PMID: 24580733
DOI: 10.1111/cge.12365

Genes

SMAD4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Myhre syndrome.PMID 24580733Read ↗

Myhre and LAPS syndromes: clinical and molecular review of 32 patients.Semantic proximity Read ↗

Myhre syndrome: A first familial recurrence and broadening of the phenotypic spectrumSemantic proximity Read ↗

Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.Semantic proximity Read ↗

Novel SMAD4 mutation causing Myhre syndrome.Semantic proximity Read ↗

Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations.Semantic proximity Read ↗

First documented case of Myhre syndrome in Romania: A case reportSemantic proximity Read ↗

Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome.Semantic proximity Read ↗

Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016-2023).Semantic proximity Read ↗

Natural history and life-threatening complications in Myhre syndrome and review of the literature.Semantic proximity Read ↗

SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan.Semantic proximity Read ↗

Myhre syndrome: expanding its paediatric phenotypic spectrum.Semantic proximity Read ↗

Gain-of-function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.