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 ...

The Genomic Oligoarray and SNP Array Evaluation Tool 3.0 matches candidate genes within regions of homozygosity with a patient’s phenotype, by mining OMIM for gene entries that contain a Clinical ...

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 ...

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 ...

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 ...

Polycystic kidney disease (PKD) is a genetic disorder in which cysts develop in your kidneys. These cysts cause your kidneys to enlarge and may lead to damage. There are two main types of PKD: ...

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 ...

"Intracranial aneurysm formation in patients with ADPKD is an established relationship; the aim of our review was to encourage neurosurgeons and nephrologists alike to consider a more streamlined ...