Autosomal recessive inheritance
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The DJ-1 gene encodes a ubiquitous, highly conserved protein. Here, we show that DJ-1 mutations are associated with PARK7, a… Expand In humans, low peak bone mass is a significant risk factor for osteoporosis. We report that LRP5, encoding the low-density… Expand Dyskeratosis congenita is a progressive bone-marrow failure syndrome that is characterized by abnormal skin pigmentation… Expand Narcolepsy is a disabling sleep disorder affecting humans and animals. It is characterized by daytime sleepiness, cataplexy, and… Expand Parkinson's disease is a common neurodegenerative disease with complex clinical features. Autosomal recessive juvenile… Expand Ophthalmological and molecular genetic studies were performed in a consanguineous family with individuals showing either… Expand de la Chapelle dysplasia, also known as atelosteogenesis type II, is a lethal form of neonatal dwarfism in which gross limb… Expand Friedreich's ataxia (FRDA) is an autosomal recessive, degenerative disease that involves the central and peripheral nervous… Expand A gene, ATM, that is mutated in the autosomal recessive disorder ataxia telangiectasia (AT) was identified by positional cloning… Expand THE clinical manifestations of Fanconi's anemia, an autosomal recessive disorder, include progressive pancytopenia, a… Expand