Transforming growth factor-beta (TGF-β) signaling is essential for the maintenance of the
normal structure and function of the aorta. It includes SMAD-dependent canonical pathways …

Acromelic dysplasias are a group of rare musculoskeletal disorders that collectively present
with short stature, pseudomuscular build, stiff joints, and tight skin. Acromelic dysplasias are …

Background Myhre syndrome (MS) is a rare genetic disease characterized by skeletal
disorders, facial features and joint limitation, caused by a gain of function mutation in …

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

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 Tetralogy of Fallot (ToF) can be associated with a wide range of extracardiac
anomalies, with an underlying etiology identified in approximately 10% of cases. Individuals …

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

Background: Myhre syndrome, caused by pathogenic variants in SMAD4, is characterized
by compact body habitus with short stature, distinctive craniofacial appearance, stiff skin …

Intrauterine onset syndromic short stature constitutes a group of diseases that pose
challenges in differential diagnosis due to their rarity and clinical as well as molecular …

Juvenile polyposis syndrome (JPS) is an autosomal dominant, inherited disorder caused by
pathogenic germline variants of mainly SMAD4 or BMPR1A genes. Some patients with JPS …