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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

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Highly Cited
2007
Highly Cited
2007
Hereditary hypotrichosis is a rare autosomal recessive disorder characterized by sparse hair on scalp and rest of the body of… 
Review
2007
Review
2007
Purpose of review Phytosterols and stanols are plant derivatives that compete with cholesterol for intestinal absorption and… 
Highly Cited
1999
Highly Cited
1999
The cDNA encoding the 471-amino acid rat 7-dehydrocholesterol reductase (DHCR), an enzyme that has been implicated in both… 
1997
1997
We identified a Canadian-Mennonite family in which a brother and sister have hydrocephalus due to obstruction at the foramen of… 
Highly Cited
1990
Highly Cited
1990
Fryns syndrome is an autosomal recessive, genetically determined condition with variable expression, which includes abnormal… 
1984
1984
Two siblings born to consanguineous parents are reported with typical clinical features of the Ehlers‐Danlos syndrome type IV… 
1980
1980
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
A 31‐year‐old male is described who has macular cherry‐red spots, increased deep tendon reflexes and myoclonus without dementia…