A novel autosomal recessive malformation syndrome associated with developmental delay and distinctive facies maps to 16ptel in the Hutterite population-Reference-Cited by-同舟云学术

A novel autosomal recessive malformation syndrome associated with developmental delay and distinctive facies maps to 16ptel in the Hutterite population

Published:2010 Issue: Volume: Page:n/a-n/a
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Boycott Kym M.,Beaulieu Chandree,Puffenberger Erik G.,McLeod D. Ross,Parboosingh Jillian S.,Innes A. Micheil

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference14 articles.

1. Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome;Armistead;Am J Hum Genet,2009

2. Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis;Berkovic;Am J Hum Genet,2008

3. Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification;Boycott;Am J Hum Genet,2005

4. Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndrome;Boycott;Am J Med Genet Part A,2007

5. Clinical genetics and the Hutterite population: A review of Mendelian disorders;Boycott;Am J Med Genet Part A,2008

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