Abstract Myhre syndrome (MS, MIM 139210) is a rare multisystemic disorder caused by
recurrent pathogenic missense variants in SMAD4. The clinical features have been mainly …

Background There are approximately 8,000 different rare diseases that affect roughly 400
million people worldwide. Many of them suffer from delayed diagnosis. Ciliopathies are rare …

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

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 …

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

Myhre syndrome is a rare disease secondary to pathogenic variants in SMAD4 gene. It is a
multisystem disease characterised by short stature, deafness, joint stiffness, craniofacial …

Psychiatric manifestations of Myhre syndrome: A case report : Indian Journal of Psychiatry
Psychiatric manifestations of Myhre syndrome: A case report : Indian Journal of Psychiatry Log …

Myhre syndrome is a rare genetic disease caused by recurrent gain‐of‐function variants in
SMAD4 (Ile500Thr, Ile500Val, Arg496Cys, and Ile500Met) characterized by postnatal short …

Background Rare diseases affect approximately 400 million people worldwide. Many of
them suffer from delayed diagnosis. Among them, NPHP1-related renal ciliopathies need to …

Myhre syndrome is a multisystem connective tissue disorder involving the skin and the
cardiovascular, respiratory, gastrointestinal, and musculoskeletal systems. Affected …