Purpose: Alagille syndrome is an autosomal dominant condition characterized by a paucity of interlobular bile ducts and chronic cholestasis, cardiac disease, skeletal abnormalities, ocular ...
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 ...
October 6, 2008 — Mutations of EYS, a previously unreported gene on human chromosome 6, have been identified in families with autosomal recessive retinitis pigmentosa. The finding of 6 independent ...
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 ...
Sickle cell disease advocates in East Texas say raising awareness and expanding education are critical steps toward improving ...
This is a preview. Log in through your library . Abstract Saguenay-Lac-St-Jean is a geographically isolated region of northeastern Quebec in which several autosomal recessive disorders have a high ...
JCR and MEDIPAL announced that the Ministry of Health, Labour and Welfare of Japan has granted orphan drug designation to ...
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 ...
Amanda MacMillan is a health and science writer and editor. Her work appears across brands like Health, Prevention, SELF, O Magazine, Travel + Leisure, Time Out New York, and National Geographic's The ...
Geleophysic dysplasia is a rare genetic condition that causes a smaller physical stature, as well as challenges with joints and internal organs, among others. Geleophysic dysplasia (GD) is inherited ...
Cutis laxa is the general name for a group of rare disorders that affects your connective tissue. This tissue gives your muscles, joints, skin, and organs structure. Most types of cutis laxa are ...
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