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Autosomal Recessive Disorder

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

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2007
Highly Cited
2007
A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis
Hereditary hypotrichosis is a rare autosomal recessive disorder characterized by sparse hair on scalp and rest of the body of… 
Review
2007
Review
2007
Phytosterols and vascular disease
Purpose of review Phytosterols and stanols are plant derivatives that compete with cholesterol for intestinal absorption and… 
Review
2004
Review
2004
Before the loss: neuronal dysfunction in Niemann-Pick Type C disease.
Highly Cited
1999
Highly Cited
1999
Cholesterol Biosynthesis from Lanosterol
The cDNA encoding the 471-amino acid rat 7-dehydrocholesterol reductase (DHCR), an enzyme that has been implicated in both… 
1997
1997
Bilateral sensorineural deafness and hydrocephalus due to foramen of Monro obstruction in sibs: a newly described autosomal recessive disorder.
We identified a Canadian-Mennonite family in which a brother and sister have hydrocephalus due to obstruction at the foramen of… 
Review
1992
Review
1992
DNA repair investigations in nine Italian patients affected by trichothiodystrophy.
Highly Cited
1990
Highly Cited
1990
Fryns syndrome: an autosomal recessive disorder associated with craniofacial anomalies, diaphragmatic hernia, and distal digital hypoplasia.
Fryns syndrome is an autosomal recessive, genetically determined condition with variable expression, which includes abnormal… 
1984
1984
Ehlers‐Danlos syndrome type IV D: an autosomal recessive disorder
Two siblings born to consanguineous parents are reported with typical clinical features of the Ehlers‐Danlos syndrome type IV… 
1980
1980
Congenital lethal metaphyseal chondrodysplasia: a newly recognized complex autosomal recessive disorder.
This is a report of two brothers, born within a year of each other, with a similar skeletal disorder of severe congenital… 
Highly Cited
1978
Highly Cited
1978
Sialidase (α‐N‐acetyl neuraminidase) deficiency: the enzyme defect in an adult with macular cherry‐red spots and myoclonus without dementia
A 31‐year‐old male is described who has macular cherry‐red spots, increased deep tendon reflexes and myoclonus without dementia… 
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