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

Myhre syndrome is a rare multisystem connective tissue disorder, characterized by short
stature, facial dysmorphology, variable intellectual disability, skeletal abnormalities …

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 Myhre syndrome (MS, MIM 139210) is a rare multisystemic disorder caused by
recurrent pathogenic missense variants in SMAD4. The clinical features have been mainly …

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

Myhre syndrome is a clinically distinct syndrome with multiple system involvement. It was
first described in 1981 by Myhre et al.(1981) in two unrelated patients. The condition was …

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

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

Myhre syndrome (MYHRS, OMIM 139210) is an autosomal dominant disorder characterized
by developmental and growth delay, athletic muscular built, variable cognitive deficits …