A novel c.240_241insGG mutation in NDP gene in a family with Norrie disease-Reference-Cited by-同舟云学术

A novel c.240_241insGG mutation in NDP gene in a family with Norrie disease

Published:2018-03-01 Issue:2 Volume:101 Page:255-259
ISSN:0816-4622
Container-title:Clinical and Experimental Optometry
language:en
Short-container-title:Clinical and Experimental Optometry

Author:

Andarva Monavvar¹,Jamshidi Javad²,Ghaedi Hamid¹,Daftarian Narsis³,Emamalizadeh Babak⁴,Alehabib Elham¹,Taghavi Shaghyegh¹,Pouriran Ramin¹,Darvish Hossein¹

Affiliation:

1. Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran,

2. Noncommunicable Diseases Research Center, Fasa University of Medical Sciences, Fasa, Iran,

3. Ocular Tissue Engineering Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran,

4. Department of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran,

Funder

Shahid Beheshti University of Medical Sciences

Publisher

Informa UK Limited

Subject

Optometry,Ophthalmology

Link

https://www.tandfonline.com/doi/pdf/10.1111/cxo.12599

Reference22 articles.

1. NORRIE'S DISEASE

2. NORRIE'S DISEASE

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

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

5. Isolation of a candidate gene for Norrie disease by positional cloning

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1. Novel mutation in the NDP gene associated with Norrie disease in a Chinese pedigree;Molecular Genetics & Genomic Medicine;2023-12-26

2. Next-generation sequencing reveals a case of Norrie disease in a child with bilateral ocular malformation;Frontiers in Genetics;2022-08-12

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

4. Hearing Function, Degeneration, and Disease: Spotlight on the Stria Vascularis;Frontiers in Cell and Developmental Biology;2022-03-04