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 ...
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 ...
Adrenoleukodystrophy is a rare condition associated with abnormalities in myelin, the white matter that protects nerve fibers in the spinal cord and brain. It occurs due to a mutation on the X ...
Alkaptonuria is caused by the deficiency of a single enzyme called homogentisate 1,2 dioxygenase. This is responsible for the degradation of homogentisic acid (HGA) to maleylacetoacetic acid via the ...
Familial dilated cardiomyopathy is being increasingly recognized, but affected individuals <10 y are rarely identified. We describe the natural history of dilated cardiomyopathy and evaluate the mode ...
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 ...
Factor VII deficiency is a rare genetic disorder. It occurs when your body can’t produce enough clotting factor VII, which helps in healing wounds. It can be hereditary or be caused by an underlying ...
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 ...
Basal ganglia calcification is when calcium deposits form in your brain. It can potentially cause a variety of neurological symptoms and can affect mood, perceptions, and behavior. The basal ganglia ...
Community Genetics, Vol. 8, No. 1, Community Genetics in the Arabian Gulf Region (2005), pp. 27-30 (4 pages) Objectives:The local frequencies of genetic disorders in Oman apart from hemoglobinopathies ...
Please provide your email address to receive an email when new articles are posted on . SGLT2 inhibitors vs. other agents were tied to a slower eGFR decline for adults with ADPKD and type 2 diabetes.
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