Purpose: Alagille syndrome is an autosomal dominant condition characterized by a paucity of interlobular bile ducts and chronic cholestasis, cardiac disease, skeletal abnormalities, ocular ...
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, ...
Rise and Shine is available to stream on pbs.org and the free PBS App, available on iPhone, Apple TV, Android TV, Android smartphones, Amazon Fire TV, Amazon Fire Tablet, Roku, Samsung Smart TV, and ...
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