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

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

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

Myhre syndrome is a rare autosomal dominant multi-organ disorder characterized by growth
retardation, skeletal anomalies, muscular hypertrophy, joint stiffness, facial dysmorphism …

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 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 …