Background Myhre syndrome is a genetic disorder caused by gain of function mutations in
the SMAD Family Member 4 (SMAD4) gene, resulting in progressive, proliferative skin and …

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 …

Myhre syndrome (OMIM 139210) is a rare developmental disorder inherited as an
autosomal dominant trait and caused by a narrow spectrum of missense mutations in the …

Myhre syndrome is a rare genetic autosomal dominant connective tissue disorder,
characterized by developmental delay, characteristic facial features, various bone and joint …

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

Background: Myhre syndrome, caused by pathogenic variants in SMAD4, is characterized
by compact body habitus with short stature, distinctive craniofacial appearance, stiff skin …

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 …

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 rare disorder characterized by pre‐and postnatal short stature,
brachydactyly, facial dysmorphism (short palpebral fissures, maxillary hypoplasia …

Myhre syndrome (MS) is a connective tissue disorder with multisystem involvement with or
without intellectual disability. In most cases SMAD4 mutations are reported. To date, 55 …