Autism spectrum disorder (ASD) is among the most widespread neurodevelopmental
diseases, with an approximate prevalence rate of 1 in 59. From a genetic point of view, this …

Intestinal microorganisms impact health by maintaining gut homeostasis and shaping the
host immunity, while gut dysbiosis associates with many conditions, including autism, a …

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 …

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 …

The present study explored the shift from understanding to intervention to population impact
in the empirical research published in this journal at five points of time over 40 years since …

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

Myhre syndrome is a rare autosomal dominant multisystemic disorder. Typical features of
this disorder include distinctive facial appearance, deafness, intellectual disability …

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 …

We aimed to identify blood gene expression patterns associated to psychopathological
trajectories retrieved from a large community, focusing on the emergence and remission of …

Myhre syndrome is a rare autosomal dominant multi-organ disorder characterized by growth
retardation, skeletal anomalies, muscular hypertrophy, joint stiffness, facial dysmorphism …