We identified a large family segregating an uncomplicated and early onset form of HSP. Exome sequencing revealed homozygosity for a novel ATL1 missense variant in the six affected family members, ...

Terms like "autosomal recessive" and "dominant" are frequently tossed around, and you've probably heard them. But what does any of that really mean regarding the traits that children inherit from ...

Acta Genetica et Statistica Medica, Vol. 7, No. 1, >PROCEEDINGS OF THE FIRST INTERNATIONAL CONGRESS OF HUMAN GENETICS, Copenhagen, August 1-6, 1956, PART IV (1957), pp. 178-184 (7 pages) ...

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 ...

Why are some genes dominant? Such as those for brown eyes over blue eyes, or so I am led to believe. Or do they actually blend in some way? Here's what science has to say: In the 19th century, ...

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 ...