Digenic Alport syndrome refers to the inheritance of pathogenic variants in COL4A5 plus
COL4A3 or COL4A4 or in COL4A3 plus COL4A4. Where digenic Alport syndrome includes a …

Background The diagnosis of rare genetic diseases is often challenging due to the
complexity of the genetic underpinnings of these conditions and the limited availability of …

Notwithstanding important advances in the context of single-variant pathogenicity
identification, novel breakthroughs in discerning the origins of many rare diseases require …

Background Understanding the impact of gene interactions on disease phenotypes is
increasingly recognised as a crucial aspect of genetic disease research. This trend is …

A tremendous amount of DNA sequencing data is being produced around the world with the
ambition to capture in more detail the mechanisms underlying human diseases. While …

Background Congenital hydrocephalus is characterized by ventriculomegaly, defined as a
dilatation of cerebral ventricles, and thought to be due to impaired cerebrospinal fluid (CSF) …

Background The prediction of potentially pathogenic variant combinations in patients
remains a key task in the field of medical genetics for the understanding and detection of …

Inherited diseases are not always expressed in the same way in every individual that carries
the same variant in a disease-causing gene. This phenomenon is known as reduced or …

Rare diseases affect millions of people worldwide, and discovering their genetic causes is
challenging. More than half of the individuals analyzed by the Undiagnosed Diseases …

Individuals who have ocular features of albinism and skin pigmentation in keeping with their
familial background present a considerable diagnostic challenge. Timely diagnosis through …