Background Myhre syndrome (MS) is a rare genetic disease characterized by skeletal
disorders, facial features and joint limitation, caused by a gain of function mutation in …

Abstract Introduction: Myhre syndrome (MS; OMIM# 139210) is a rare connective tissue
disorder presenting with cardiovascular, respiratory, gastrointestinal, and skeletal system …

Background Myhre syndrome is a rare multisystem genetic disorder that is caused by de
novo heterozygous gain‐of‐function variants in SMAD4. Patients with Myhre syndrome …

Myhre syndrome (MS) is a rare autosomal-dominant disorder characterized by short stature,
intellectual disability, skeletal anomalies, restricted joint mobility, distinctive facial …

First described by Myhre et al. in 1981, Myhre syndrome is a rare multisystem disorder
(Myhre et al., 1981). Typical features include short stature, prominent facial dysmorphism …