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 ...

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 ...

Werner syndrome, also known as adult progeria, is a rare genetic disorder characterized by accelerated aging and the premature onset of age-related symptoms. It is caused by mutations in the WRN gene, ...

Large genomic rearrangements in germline BRCA1/2 pathogenic variant architecture across tumor types. Uncovering genetic susceptibility to second malignant neoplasms in children and young adults: ...

Nearly everyone — with rare exceptions — is born with 23 pairs of chromosomes that were passed down from parents through combinations of their 46 chromosomes. X and Y, the two most popularly known ...

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 ...

Von Willebrand disease (VWD) is a bleeding disorder in which the blood does not clot as it should. Usually, people have VWD due to their genes, which may come from a male or female parent. Blood ...

Retinitis pigmentosa is one of the commonest forms of inherited retina degenerative blindness worldwide. With the advent of molecular technologies it has become easier to identify the genetic defects ...

Most people with ALS don’t have a family history of it. Still, some cases of ALS are linked to inheriting specific gene mutations. Even nonfamilial cases can be linked to sporadic gene mutations that ...