A novel missense mutation in theNDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms-Reference-Cited by-同舟云学术

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A novel missense mutation in theNDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms

Published:2007 Issue:9 Volume:143A Page:921-924
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Lev Dorit,Weigl Yuval,Hasan Mariana,Gak Eva,Davidovich Michael,Vinkler Chana,Leshinsky-Silver Esther,Lerman-Sagie Tally,Watemberg Nathan

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference16 articles.

1. Mutations in the candidate gene for Norrie disease

2. Close linkage between Norrie disease, a cloned DNA sequence from the proximal short arm, and the centromere of the X chromosome

3. Norrie disease as part of a complex syndrome explained by a submicroscopic deletion of the X chromosome

4. Isolation and characterization of a candidate gene for Norrie disease

5. A mutation in the Norrie disease gene (NDP) associated with X–linked familial exudative vitreoretinopathy

Cited by 27 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. Endolymphatic Hydrop Phenotype in Familial Norrie Disease Caused by Large Fragment Deletion of NDP;Frontiers in Aging Neuroscience;2022-04-18

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

3. Norrie disease with a spontaneously shrinking choroid plexus abnormality: a case report;Ophthalmic Genetics;2021-03-01

4. Identification of Gene Mutations in Atypical Retinopathy of Prematurity Cases;Journal of Ophthalmology;2020-08-20

5. Modeling epileptic spasms during infancy: Are we heading for the treatment yet?;Pharmacology & Therapeutics;2020-08

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