Werner syndrome, also known as adult progeria, is a rare genetic disorder characterized by accelerated aging and the ...

Cystic fibrosis (CF) is an autosomal recessive condition. This means that a person will have CF only if they receive the affected gene from both parents at conception. Share on Pinterest Dalibor ...

Diagnostic exome sequencing (DES) is an effective tool for diagnosis in intractable cases where the underlying cause is thought be genetic. It is commonly assumed that patients with a family history ...

Some health problems are passed down through families. There are different ways this can happen. To have a child born with what’s called an “autosomal recessive disease” like sickle cell disease or ...

Here, we present a new example of reverse phenotyping that made it possible to identify homozygous variants in SASH1 as the likely cause of a new genodermatosis overlapping with DSH. The proband’s ...

This Journal feature begins with a case vignette highlighting a common clinical problem. Evidence supporting various strategies is then presented, followed by a review of formal guidelines, when they ...