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 …

Aims: Myhre syndrome is a rare disorder characterized by abnormal growth of the skeleton,
muscles, and joints. The relationship of this syndrome to craniofacial growth and …

Background Menetrier's disease (MD) is a rare disease with unknown aetiology,
characterized by hypertrophic folds within the fundus and body of the stomach. Aims We …

Juvenile polyposis syndrome (JPS) is caused by heterozygous mutations in either SMAD4
or BMPR1A. Individuals with JPS due to mutations in SMAD4 are at greater risk to manifest …

Juvenile polyposis syndrome (JPS; OMIM 174900) is a rare disorder which is characterized
by the presence of hamartomatous polyps throughout the gastrointestinal tract and an …

Background Both hereditary haemorrhagic telangiectasia (HHT) and juvenile polyposis
syndrome (JPS) are known to be caused by SMAD4 pathogenic variants, with overlapping …

SMAD4 encodes a member of the SMAD family of proteins involved in the TGF-β signaling
pathway. Potentially heritable, autosomal dominant, gain-of-function heterozygous variants …

Abstract Myhre syndrome (MS, MIM 139210) is a connective tissue disorder that presents
with short stature, short hands and feet, facial dysmorphic features, muscle hypertrophy …

Mutations in SMAD4 have been associated with juvenile polyposis syndrome and combined
juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome. SMAD4 is part of the …

Relatively little is known on the genotype-phenotype correlations between SMAD4 gene
mutations, juvenile polyposis of the intestine and Hereditary Hemorrhagic Teleangectasia …