Myhre syndrome is a rare genetic disease caused by recurrent gain‐of‐function variants in
SMAD4 (Ile500Thr, Ile500Val, Arg496Cys, and Ile500Met) characterized by postnatal short …

Introduction Myhre syndrome (MS) is an ultra‐rare disorder due to pathogenic variants in the
SMAD4 gene that encodes a protein regulating the TGF‐β pathway and extra‐cellular matrix …

Myhre syndrome is a rare disease secondary to pathogenic variants in SMAD4 gene. It is a
multisystem disease characterised by short stature, deafness, joint stiffness, craniofacial …

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 …

Myhre syndrome (MS) is a rare autosomal-dominant disorder characterized by short stature,
intellectual disability, skeletal anomalies, restricted joint mobility, distinctive facial …

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

Background: Myhre syndrome is a rare connective tissue disorder caused by heterozygous
pathogenic variants in the SMAD4 gene. Although recognizing Myhre syndrome in early …

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

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 …