Purpose: Alagille syndrome is an autosomal dominant condition characterized by a paucity of interlobular bile ducts and chronic cholestasis, cardiac disease, skeletal abnormalities, ocular ...

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 ...

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 ...

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 ...

Based on the inheritance pattern, EDS can be classified as autosomal dominant, autosomal recessive, and autosomal dominant or recessive. In each of these types, a set of major and minor criteria is ...

Hereditary thrombotic thrombocytopenic purpura (TTP), also known as Upshaw–Schulman syndrome (Online Mendelian Inheritance in Man number, 274150), is a rare autosomal recessive disorder caused by ...

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 ...

A preliminary analysis is presented of the mode of inheritance of patterns of male secondary sex coloration in several wild populations of Lebistes reticulatus in Trinidad. A high proportion of such ...

Recent proteomic studies have offered glimpses into the biology of early Alzheimer’s disease. Two new preprints take this approach further, describing high-throughput surveys that turned up numerous ...

Disparate Rates of Germline Variants in Cancer Predisposition Genes in African American/Black Compared With Non-Hispanic White Individuals Between 2015 and 2022 The funding sources did not play a role ...

Please provide your email address to receive an email when new articles are posted on . Nephrectomy can be effectively performed in patients with autosomal dominant PKD for various indications, such ...

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 ...