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

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

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

Myhre syndrome (MS) is a developmental disorder characterized by typical facial
dysmorphism, thickened skin, joint limitation and muscular pseudohypertrophy. Other …

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 …

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 …

Background The inactivation of tumor suppressor genes follows Alfred Knudson's' two-
hit'model: both alleles need to be inactivated by independent mutation events to trigger …

Allelic loss of chromosome 18q has been noted in intestinal type gastric adenocarcinomas.
Smad4 is a gene located at 18q that was recently cloned in humans and found to be …