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 …

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 …

The presence of lymph node metastases in endometrial cancer patients is a critical factor
guiding treatment decisions; however, surgical and imaging methods for their detection are …

Loss‐of‐function pathogenic variants in somatic and germline cells in SMAD4 may cause
cancer and juvenile polyposis‐Hereditary Hemorrhagic Telangiectasia (SMAD4‐JP‐HHT) …

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 …

Abstract Introduction: Myhre syndrome (MS; OMIM# 139210) is a rare connective tissue
disorder presenting with cardiovascular, respiratory, gastrointestinal, and skeletal system …

Background Myhre syndrome is a genetic disorder caused by gain of function mutations in
the SMAD Family Member 4 (SMAD4) gene, resulting in progressive, proliferative skin and …