Norrie disease resulting from a gene deletion: clinical features and DNA studies.-Reference-Cited by-同舟云学术

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Norrie disease resulting from a gene deletion: clinical features and DNA studies.

Published:1988-02-01 Issue:2 Volume:25 Page:73-78
ISSN:1468-6244
Container-title:Journal of Medical Genetics
language:en
Short-container-title:Journal of Medical Genetics

Author:

Donnai D,Mountford R C,Read A P

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference14 articles.

1. Causes of blindness in children;Norrie, G.;Acta Ophthalmol (Kbh),1927

2. Norrie's disease, a congenital progressive oculoacoustico-cerebral degeneration;Warburg, M.;Acta Ophthalmol [Suppli (Kbh),1966

3. Norrie's disease;Hansen, A.C.;Am J Ophthalmol,1968

4. Norrie's disease (hereditary oculoacoustico-cerebral degeneration);Townes, P.L.; Roca, P.D.;Am J Ophthalmol,1973

5. A presumptive new variant of Norrie's disease;Moreira-Filho, C.A.; Neustein, I.;J Med Genet,1979

Cited by 65 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Ocular Manifestations in Patients with Sensorineural Hearing Loss;Journal of Ophthalmic and Vision Research;2022-11-24

2. Epilepsy in Norrie disease;Epilepsy and paroxysmal conditions;2022-04-17

3. Refractory epilepsy in Norrie disease;Neurological Sciences;2018-05-03

4. A novel contiguous deletion involving $$\varvec{NDP},$$ NDP , MAOB and EFHC2 gene in a patient with familial Norrie disease: bilateral blindness and leucocoria without other deficits;Journal of Genetics;2017-12

5. Epilepsy phenotypes in siblings with Norrie disease;Brain and Development;2015-11

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