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

Novel SMAD4 mutation causing Myhre syndrome.

American journal of medical genetics. Part A - 1 Jul 2014

Caputo Viviana, Bocchinfuso Gianfranco, Castori Marco, Traversa Alice, Pizzuti Antonio, Stella Lorenzo, Grammatico Paola, Tartaglia Marco

Abstract excerpt

Myhre syndrome (MYHRS, OMIM 139210) is an autosomal dominant disorder characterized by developmental and growth delay, athletic muscular built, variable cognitive deficits, skeletal anomalies, stiffness of joints, distinctive facial gestalt and deafness. Recently, SMAD4 (OMIM 600993) was identified by exome sequencing as the disease gene mutated in MYHRS. Previously only three missense mutations affecting Ile500...

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 Growth Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hand Deformities, Congenital

Share to Hypertrophy

Share to Joint Diseases

Share to Protein Stability

Share to Smad4 Protein

Source

Identifiers

PMID: 24715504
DOI: 10.1002/ajmg.a.36544

Genes

SMAD4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel SMAD4 mutation causing Myhre syndrome.PMID 24715504Read ↗

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

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

SMAD4 Pathogenic Variants in Seven New Brazilian Individuals With Myhre Syndrome Including a New Family.Semantic proximity Read ↗

Myhre syndrome.Semantic proximity Read ↗

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 ↗

The first two Chinese Myhre syndrome patients with the recurrent SMAD4 pathogenic variants: Functional consequences and clinical diversity.Semantic proximity Read ↗

Myhre syndrome is caused by dominant-negative dysregulation of SMAD4 and other co-factors.Semantic proximity Read ↗

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

A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot.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.