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A Founder Effect in the Newfoundland Population Reduces the Bardet-Biedl Syndrome I (BBS1) Interval to 1 cM

Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive disorder; major phenotypic findings include dysmorphic extremities, retinal dystrophy, obesity, male hypogenitalism, and renal anomalies. In the majority of northern European families with BBS, the syndrome is linked to a 26-cM region on chr...

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Bibliografiske detaljer
Main Authors: Young, Terry-Lynn, Woods, Michael O., Parfrey, Patrick S., Green, Jane S., Hefferton, Donna, Davidson, William S.
Format: Artigo
Sprog:Inglês
Udgivet: The American Society of Human Genetics 1999
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1288379/
https://ncbi.nlm.nih.gov/pubmed/10577922
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