Myhre syndrome, a connective tissue disorder characterized by deafness, restricted joint
movement, compact body habitus, and distinctive craniofacial and skeletal features, is …

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

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

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

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 …

Prenatal testing was performed in a 39‐year‐old Chinese pregnant woman referred for
increased nuchal translucency measuring 5.7 mm. Non‐invasive prenatal testing and SNP …

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 autosomal dominant multisystemic disorder. Typical features of
this disorder include distinctive facial appearance, deafness, intellectual disability …