Autosomal Recessive Disorder

An inherited disorder manifested only when two copies of a mutated gene are present.
National Institutes of Health

Papers overview

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Highly Cited
2004
Highly Cited
2004
Identification and characterization of a novel and specific inhibitor of the ataxia-telangiectasia mutated kinase ATM.
The serine/threonine protein kinase ATM signals to cell cycle and DNA repair components by phosphorylating downstream targets… (More)
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Highly Cited
2001
Highly Cited
2001
Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis.
Desmosterolosis is a rare autosomal recessive disorder characterized by multiple congenital anomalies. Patients with… (More)
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Highly Cited
2001
Highly Cited
2001
Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption
The molecular mechanisms regulating the amount of dietary cholesterol retained in the body, as well as the body's ability to… (More)
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Highly Cited
2000
Highly Cited
2000
Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations.
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder defined clinically by severe… (More)
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Highly Cited
1997
Highly Cited
1997
Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1
Progressive myoclonus epilepsy of Unverricht-Lundborg type (EPM1; MIM 254800) is an autosomal recessive disorder that occurs with… (More)
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Highly Cited
1995
Highly Cited
1995
A single ataxia telangiectasia gene with a product similar to PI-3 kinase.
A gene, ATM, that is mutated in the autosomal recessive disorder ataxia telangiectasia (AT) was identified by positional cloning… (More)
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1995
1995
Infantile variant of Bartter syndrome and sensorineural deafness: a new autosomal recessive disorder.
The infantile variant of Bartter syndrome (IBS) is usually associated with maternal polyhydramnios, premature birth, postnatal… (More)
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1986
1986
Ligneous conjunctivitis: an autosomal recessive disorder.
Two siblings, a boy and a girl, developed a chronic, bilateral conjunctivitis with large recurrent pseudomembranes. The diagnosis… (More)
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1985
1985
Familial microcephaly with normal intelligence, immunodeficiency, and risk for lymphoreticular malignancies: a new autosomal recessive disorder.
We describe nine patients with an apparently new genetic disorder characterized by: microcephaly with normal intelligence; "bird… (More)
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1977
1977
Sclerosteosis - an autosomal recessive disorder.
Sclerosteosis is a rare, potentially lethal skeletal disorder in which massive bony over-growth leads to facial distortion… (More)
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