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Autosomal recessive inheritance

Known as: Autosomal recessive, Autosomal recessive., autosomal recessives 
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the… Expand
National Institutes of Health

Papers overview

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Highly Cited
2002
Highly Cited
2002
The DJ-1 gene encodes a ubiquitous, highly conserved protein. Here, we show that DJ-1 mutations are associated with PARK7, a… Expand
Highly Cited
2001
Highly Cited
2001
In humans, low peak bone mass is a significant risk factor for osteoporosis. We report that LRP5, encoding the low-density… Expand
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Highly Cited
2001
Highly Cited
2001
Dyskeratosis congenita is a progressive bone-marrow failure syndrome that is characterized by abnormal skin pigmentation… Expand
Highly Cited
1999
Highly Cited
1999
Narcolepsy is a disabling sleep disorder affecting humans and animals. It is characterized by daytime sleepiness, cataplexy, and… Expand
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Highly Cited
1998
Highly Cited
1998
Parkinson's disease is a common neurodegenerative disease with complex clinical features. Autosomal recessive juvenile… Expand
Highly Cited
1998
Highly Cited
1998
Ophthalmological and molecular genetic studies were performed in a consanguineous family with individuals showing either… Expand
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Highly Cited
1997
Highly Cited
1997
de la Chapelle dysplasia, also known as atelosteogenesis type II, is a lethal form of neonatal dwarfism in which gross limb… Expand
Highly Cited
1996
Highly Cited
1996
Friedreich's ataxia (FRDA) is an autosomal recessive, degenerative disease that involves the central and peripheral nervous… Expand
Highly Cited
1995
Highly Cited
1995
A gene, ATM, that is mutated in the autosomal recessive disorder ataxia telangiectasia (AT) was identified by positional cloning… Expand
Highly Cited
1989
Highly Cited
1989
THE clinical manifestations of Fanconi's anemia, an autosomal recessive disorder, include progressive pancytopenia, a… Expand
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