7 Mb de novo deletion within 8q21 in a patient with distal arthrogryposis type 2B (DA2B)-Reference-Cited by-同舟云学术

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7 Mb de novo deletion within 8q21 in a patient with distal arthrogryposis type 2B (DA2B)

Published:2011-09 Issue:5 Volume:54 Page:e495-e500
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Hofmann Kristin,Becker Jutta,Heller Raoul,Boute Odile,Andrieux Joris,Hoyer Juliane,Ekici Arif B.,Reis André,Rauch Anita

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference32 articles.

1. Gene prioritization through genomic data fusion;Aerts;Nat. Biotechnol.,2006

2. A revised and extended classification of the distal arthrogryposes;Bamshad;Am. J. Med. Genet.,1996

3. Deletion of the long arm of chromosome 8 resulting from a de novo translocation t(4;8) (q13;q213);Dallapiccola;Hum. Genet.,1977

4. Interstitial deletion of 8q21→22 associated with minor anomalies, congenital heart defect, and Dandy–Walker variant;Donahue;Am. J. Med. Genet.,1995

5. Reducing endoplasmic reticulum stress through a macrophage lipid chaperone alleviates atherosclerosis;Erbay;Nat. Med.,2009

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