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

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

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

Myhre syndrome is an increasingly diagnosed rare syndrome that is caused by one of two
specific heterozygous gain‐of‐function pathogenic variants in SMAD4. The phenotype …

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

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 …

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 …

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 autosomal dominant disorder caused by a narrow spectrum of
missense mutations in the SMAD4 gene. Typical features of this disorder are distinctive …

Myhre syndrome (MIM 139210) is a developmental disorder characterized by short stature,
short hands and feet, facial dysmorphism, muscular hypertrophy, deafness and cognitive …