Loading...

Recurrence risks for Bardet-Biedl syndrome: Implications of locus heterogeneity

PURPOSE: Bardet-Biedl syndrome is a pleiotropic multiple anomaly syndrome inherited in an autosomal recessive pattern. It is now known that this disorder has locus heterogeneity, with causative mutations identified in as many as 14 genes. The aim of this study was to derive locus-specific recurrence...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Main Authors: Sapp, Julie C., Nishimura, Darryl, Johnston, Jennifer J., Stone, Edwin M., Héon, Elise, Sheffield, Val C., Biesecker, Leslie G.
Format: Artigo
Sprog:Inglês
Udgivet: 2010
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3115203/
https://ncbi.nlm.nih.gov/pubmed/20949666
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!