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 ...
In a recent study published in the Journal of Experimental Medicine, researchers identified that individuals with a deficiency of myeloid differentiation primary response 88 (MyD88) and interleukin-1 ...
Most autosomal recessive diseases are rare, but they collectively account for a substantial proportion of disease burden, especially in consanguineous populations. Estimation of this disease burden, ...
Polycystic kidney disease (PKD) exists in two variants, which are inherited in different ways, named autosomal dominant PKD (ADPKD) as opposed to autosomal recessive (ARPKD). Apart from this obvious ...
The genetic etiology for many forms of hearing impairment (HI) is very diverse. Non-syndromic HI (NSHI) is one of the most heterogeneous traits known. Autosomal recessive forms of prelingual HI ...
Many kidney diseases causes by single gene defects, thus treatments can be targeted to these defects
The first paper in The Lancet Series on Renal Medicine discusses genetic kidney diseases, and highlights that recently many such diseases have been shown to be single gene defects. Knowledge of a ...
Researchers have conducted what they say is the largest and most diverse study to date on how recessive genetic changes contribute to developmental disorders. The team, headed by researchers at the ...
Congenital factor VII deficiency is a rare, autosomal recessive disorder with an estimated prevalence of 1 in 1,000,000. We ...
The purpose of this study is to describe recessive alleles in strictly dominant genes. Identifying recessive mutations in genes for which only dominant disease or risk alleles have been reported can ...
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