Homozygous Deletion of the Very Low Density Lipoprotein Receptor Gene Causes Autosomal Recessive Cerebellar Hypoplasia with Cerebral Gyral Simplification

An autosomal recessive syndrome of nonprogressive cerebellar ataxia and mental retardation is associated with inferior cerebellar hypoplasia and mild cerebral gyral simplification in the Hutterite population. An identity-by-descent mapping approach using eight patients from three interrelated Hutter...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: Boycott, Kym M., Flavelle, Shauna, Bureau, Alexandre, Glass, Hannah C., Fujiwara, T. Mary, Wirrell, Elaine, Davey, Krista, Chudley, Albert E., Scott, James N., McLeod, D. Ross, Parboosingh, Jillian S.
Médium: Artigo
Jazyk:Inglês
Vydáno: The American Society of Human Genetics 2005
Témata:
Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1226212/
https://ncbi.nlm.nih.gov/pubmed/16080122
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky