Retinitis pigmentosa caused by mutations in the ciliaryMAKgene is relatively mild and is not associated with apparent extra-ocular features

Author:

van Huet Ramon A. C.1,Siemiatkowska Anna M.2,Özgül Riza K.3,Yücel Didem3,Hoyng Carel B.1,Banin Eyal4,Blumenfeld Anat4,Rotenstreich Ygal5,Riemslag Frans C. C.67,den Hollander Anneke I.128,Theelen Thomas1,Collin Rob W. J.28,van den Born L. Ingeborgh6,Klevering B. Jeroen1

Affiliation:

1. Department of Ophthalmology; Radboud University Medical Center; Nijmegen The Netherlands

2. Department of Human Genetics; Radboud University Medical Center; Nijmegen The Netherlands

3. Institute of Child Health and Metabolism Unit; Department of Pediatrics; Hacettepe University; Ankara Turkey

4. Department of Ophthalmology; Hadassah-Hebrew University Medical Center; Jerusalem Israel

5. Electrophysiology Clinic; Goldschleger Eye Research Institute; Tel Aviv University; Sheba Medical Centre; Ramat Gan Israel

6. The Rotterdam Eye Hospital; Rotterdam The Netherlands

7. Bartiméus, Institute for the Visually Handicapped; Zeist The Netherlands

8. Nijmegen Center for Molecular Life Sciences; Radboud University Medical Center; Nijmegen The Netherlands

Funder

Stichting A.F. Deutman Researchfonds Oogheelkunde, Nijmegen, The Netherlands

Foundation Fighting Blindness USA

The Netherlands Organization for Health Research and Development

Publisher

Wiley

Subject

Ophthalmology,General Medicine

Reference89 articles.

1. Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping;Abu Safieh;J Med Genet,2010

2. In search of triallelism in Bardet-Biedl syndrome;Abu-Safieh;Eur J Hum Genet,2012

3. Identification of recurrent and novel mutations in TULP1 in Pakistani families with early-onset retinitis pigmentosa;Ajmal;Mol Vis,2012

4. Dominant mutations in RP1L1 are responsible for occult macular dystrophy;Akahori;Am J Hum Genet,2010

5. Molecular characterization of Joubert syndrome in Saudi Arabia;Alazami;Hum Mutat,2012

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