Myhre Syndrome is a rare condition associated with mental retardation, short stature,
generalized muscle hypertrophy, cardiac defects and a distinct facial appearance. There …

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 condition caused by a mutation in the SMAD4 gene, which leads
to a defective TGF-β/BMP signaling, resulting in the proliferation of abnormal fibrous tissues …

Myhre syndrome is a very rare condition described thirty years ago and related to mutations
in the SMAD4 gene. It has been reported in 19 patients, including 13 males and 6 females …

Myhre syndrome is a connective tissue disorder characterized by congenital cardiovascular,
craniofacial, respiratory, skeletal, and cutaneous anomalies as well as intellectual disability …

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: first female case : Clinical Dysmorphology Myhre syndrome: first female case :
Clinical Dysmorphology Log in or Register Subscribe to journalSubscribe Get new issue …

Myhre syndrome is a developmental disorder characterized by reduced growth, generalized
muscular hypertrophy, facial dysmorphism, deafness, cognitive deficits, joint stiffness, and …

Mengrui Wu, Guiqian Chen and Yi-Ping Li, TGF-β and BMP signaling in osteoblast, skeletal
development, and bone formation, homeostasis and disease, Bone Research …

Myhre syndrome is a rare disorder characterised by short stature, skeletal anomalies, facial
dysmorphism and hearing loss (HL), resulting from heterozygous mutations of the SMAD4 …