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Article

First case of a Japanese girl with Myhre syndrome due to a heterozygous SMAD4 mutation.

American journal of medical genetics. Part A - 1 Aug 2012

Asakura Yumi, Muroya Koji, Sato Takeshi, Kurosawa Kenji, Nishimura Gen, Adachi Masanori

Abstract excerpt

This article reports the first case of a Japanese girl with molecularly confirmed Myhre syndrome (MS). The patient was 9 years old at her first visit, and she had been diagnosed with unknown skeletal dysplasia. Her phenotype fulfilled the clinical and radiological criteria for MS, such as typical facies with prognathism, hearing impairment, short stature, square body shape, and limited joint mobility. The thick...

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Source

Identifiers

PMID: 22711472
DOI: 10.1002/ajmg.a.35440

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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