Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome?-Reference-Cited by-同舟云学术

Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome?

Published:2015-04-02 Issue:1 Volume:16 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

D’Apice Maria Rosaria,Novelli Antonio,di Masi Alessandra,Biancolella Michela,Antoccia Antonio,Gullotta Francesca,Licata Norma,Minella Daniela,Testa Barbara,Nardone Anna Maria,Palmieri Giampiero,Calabrese Emma,Biancone Livia,Tanzarella Caterina,Frontali Marina,Sangiuolo Federica,Novelli Giuseppe,Pallone Francesco

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/article/10.1186/s12881-015-0164-3/fulltext.html

Reference39 articles.

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3. Klopocki E, Mundlos S. Copy-number variations, noncoding sequences, and human phenotypes. Annu Rev Genomics Hum Genet. 2011;12:53–72.

4. Zhang F, Gu W, Hurles ME, Lupski JR. Copy number variation in human health, disease, and evolution. Annu Rev Genomics Hum Genet. 2009;10:451–81.

5. Weise A, Mrasek K, Klein E, Mulatinho M, Llerena Jr JC, Hardekopf D, et al. Microdeletion and microduplication syndromes. J Histochem Cytochem. 2012;60:346–58.

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2. Copy number variation of the REXO1L1 gene cluster; euchromatic deletion variant or susceptibility factor?;European Journal of Human Genetics;2016-08-03