Myhre syndrome is a rare, distinctive syndrome due to specific gain‐of‐function mutations in
SMAD4. The characteristic phenotype includes short stature, dysmorphic facial features …

Myhre syndrome (MS) is a developmental disorder characterized by typical facial
dysmorphism, thickened skin, joint limitation and muscular pseudohypertrophy. Other …

Myhre syndrome is a developmental disorder characterized by reduced growth, generalized
muscular hypertrophy, facial dysmorphism, deafness, cognitive deficits, joint stiffness, and …

Myhre syndrome is characterized by short stature, brachydactyly, facial features,
pseudomuscular hypertrophy, joint limitation and hearing loss. We identified SMAD4 …

Although microdeletions of the long arm of chromosome 17 are being reported with
increasing frequency, deletions of chromosome band 17q24. 2 are rare. Here we report four …

We describe the clinical characteristics of 4 singleton cases, 3 males and 1 female, with
Myhre Syndrome (OMIM 139210), who were born to non-consanguineous parents. Three …

Myhre syndrome is an increasingly diagnosed ultrarare condition caused by recurrent
germline autosomal dominant de novo variants in SMAD4. Detailed multispecialty …

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 …

Myhre syndrome is a very rare condition described thirty years ago and related to mutations
in the SMAD4 gene. It has been reported in 19 patients, including 13 males and 6 females …

Los trastornos del desarrollo intelectual (TDI) son un problema global de salud pública. Esta
revisión resumió la evidencia de estudios realizados acerca de TDI en hombres y mujeres …