Mutations in the CHD7 Gene: The Experience of a Commercial Laboratory
Author:
Affiliation:
1. Department of Genetics, Case Western Reserve University, Cleveland, Ohio.
2. Formerly at GeneDx, currently at Medco Health Solutions, Franklin Lakes, New Jersey.
3. GeneDx, Gaithersburg, Maryland.
Publisher
Mary Ann Liebert Inc
Subject
Genetics (clinical),General Medicine
Link
http://www.liebertpub.com/doi/pdf/10.1089/gtmb.2010.0101
Reference34 articles.
1. Disease-causing mutations in the human genome
2. Embryonic expression profile of chickenCHD7, the ortholog of the causative gene for CHARGE syndrome
3. Phenotypic spectrum of CHARGE syndrome with CHD7 mutations
4. Endocrine and Radiological Studies in Patients with Molecularly Confirmed CHARGE Syndrome
5. Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome
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