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

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 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, 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 …

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 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 …

Myhre syndrome is a rare autosomal dominant genetic condition characterized by short
stature, distinctive facial dysmorphisms, generalized muscle hypertrophy, skeletal …

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 …