Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: Clinical gene panels versus genome-wide approaches to molecular diagnosis-Reference-Cited by-同舟云学术

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Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: Clinical gene panels versus genome-wide approaches to molecular diagnosis

Published:2018-11 Issue:3 Volume:125 Page:302-304
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Punetha Jaya,Mackay-Loder Loren,Harel Tamar,Coban-Akdemir Zeynep,Jhangiani Shalini N.,Gibbs Richard A.,Lee Ian,Terespolsky Deborah,Lupski James R.,Posey Jennifer E.

Funder

National Institutes of Health

National Institute of Neurologic Disorders and Stroke

Muscular Dystrophy Association

National Human Genome Research Institute

National Heart, Lung, and Blood Institute

Baylor-Hopkins Center for Mendelian Genomics

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference29 articles.

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2. Genetic epidemiology of Charcot-Marie-Tooth disease;Braathen;Acta Neurol. Scand. Suppl.,2012

3. Charcot-Marie-Tooth disease and related inherited neuropathies;Murakami;Medicine (Baltimore),1996

4. Charcot-Marie-Tooth disease subtypes and genetic testing strategies;Saporta;Ann. Neurol.,2011

5. Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform;Vaeth;Eur. J. Med. Genet.,2018

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