Phenotypes of 8q13.2-q13.3 microdeletion: Case report and literature review of an emerging recurrent microdeletion syndrome-Reference-Cited by-同舟云学术

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Phenotypes of 8q13.2-q13.3 microdeletion: Case report and literature review of an emerging recurrent microdeletion syndrome

Published:2015-12-10 Issue:3 Volume:170 Page:804-808
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Hamilton Mark J.¹,Sarkar Ajoy¹,Dixit Abhijit¹,Marder Elizabeth²

Affiliation:

1. Department of Clinical Genetics; Nottingham City Hospital; Nottingham University Hospitals NHS Trust; Nottingham UK

2. Department of Community Paediatrics; Nottingham Children's Hospital; Nottingham University Hospitals NHS Trust; Nottingham UK

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37497/fullpdf

Reference16 articles.

1. Genome-wide copy number variation analysis of a branchio-oto-renal syndrome cohort identifies a recombination hotspot and implicates new candidate genes;Brophy;Hum Genet,2013

2. Recurrent 8q13.2-13.3 microdeletions associated with branchio-oto-renal syndrome are mediated by human endogenous retroviral (HERV) sequence blocks;Chen;BMC Med Genet,2014

3. Branchio-oto-renal syndrome: The mutation spectrum in EYA1 and its phenotypic consequences;Chang;Hum Mutat,2004

4. Otofaciocervical syndrome: A sporadic patient supports splitting from the branchio-oto-renal syndrome;Dallapiccola;J Med Genet

5. Point mutation of an EYA1-gene splice site in a patient with oto-facio-cervical syndrome;Estefania;Ann Hum Genet,2005

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