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 ...

Retinitis pigmentosa (RP) is an eye condition that can be genetic. In this way, people usually need to inherit two copies of a genetic variation that causes RP, one coming from each parent. RP may ...

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 ...

Diseases or health problems are not only transferred through infections and inflammation, but also through your genes. There are some disorders that you already have it in your genes and you get it ...

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 ...

Thirty Italian and 18 Spanish families with deafness were included in the study. They were recruited in several clinical genetics services and schools for the deaf from Southern Italy and Spain.

We evaluated 33 unrelated probands with nonsyndromic prelingual deafness who had only one GJB2 mutant allele. Nine subjects had evidence of linkage to DFNB1. We used haplotype analysis for markers on ...