Amyoplasia has been previously described as a sporadic congenital form of skeletal muscle dysplasia resulting in arthrogryposis. We presently follow two families in which amyoplasia is not sporadic ...

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 ...

An Iranian study reports an independent observation of a homozygous GUCY2D variant in a patient with Leber congenital ...

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 ...

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: ...

New research shows how a mutant form of a protein named STAT3 causes a genetically dominant immunodeficiency. "Accordingly, this study provides vital insight into a signaling pathway essential in ...

October 28, 2026For those who want to organize their understanding of dominant and recessive inheritance patterns, and the ...

LCA has an autosomal recessive inheritance pattern, which means that both the parents need to have one gene for the disease to pass it on to the child. The condition may occur due to mutation in any ...

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 ...