Further audiovestibular characterization of DFNB77, caused by deleterious variants in LOXHD1 , and investigation into the involvement of Fuchs corneal dystrophy-Reference-Cited by-同舟云学术

Further audiovestibular characterization of DFNB77, caused by deleterious variants in LOXHD1 , and investigation into the involvement of Fuchs corneal dystrophy

Published:2018-06-08 Issue:2 Volume:94 Page:221-231
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Wesdorp M.¹²³^ORCID,Schreur V.³⁴,Beynon A.J.¹³,Oostrik J.¹³,van de Kamp J.M.⁵,Elting M.W.⁵,van den Boogaard M.-J.H.⁶,Feenstra I.⁷,Admiraal R.J.C.¹,Kunst H.P.M.¹⁸,Hoyng C.B.³⁴,Kremer H.¹³⁷,Yntema H.G.³⁷,Pennings R.J.E.¹³,Schraders M.¹³

Affiliation:

1. Department of Otorhinolaryngology, Hearing & Genes; Radboud University Medical Center; Nijmegen the Netherlands

2. The Radboud Institute for Molecular Life Sciences; Radboud University Medical Center; Nijmegen the Netherlands

3. Department of Cognition and Behaviour, Donders Institute for Brain; Radboud University Medical Center; Nijmegen the Netherlands

4. Department of Ophthalmology; Radboud University Medical Center; Nijmegen the Netherlands

5. Department of Clinical Genetics; VU University Medical Center; Amsterdam the Netherlands

6. Department of Genetics; University Medical Center Utrecht; Utrecht the Netherlands

7. Department of Human Genetics; Radboud University Medical Center; Nijmegen the Netherlands

8. Radboud Institute for Health Sciences; Radboud University Medical Center; Nijmegen the Netherlands

Funder

Heinsius Houbolt Foundation

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.13368/fullpdf

Reference37 articles.

1. Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing;Shearer;Proc Natl Acad Sci U S A,2010

2. The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in the Netherlands;Seco;Eur J Hum Genet,2017

3. Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans;Grillet;Am J Hum Genet,2009

4. The PLAT domain: a new piece in the PKD1 puzzle;Bateman;Curr Biol,1999

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