Identification of A Novel Missense Mutation in The Norrie Disease Gene: The First Molecular Genetic Analysis and Prenatal Diagnosis of Norrie Disease in An Iranian Family

Norrie disease (ND) is a rare X-linked recessive disorder, which is characterized by congenital blindness and, in several cases, accompanied with mental retardation and deafness. ND is caused by mutations in NDP, located on the proximal short arm of the X chromosome (Xp11.3). The disease has been ob...

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Detalles Bibliográficos
Autores principales: Talebi, Farah, Ghanbari Mardasi, Farideh, Mohammadi Asl, Javad, Lashgari, Ali, Farhadi, Freidoon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Royan Institute 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5893302/
https://www.ncbi.nlm.nih.gov/pubmed/29633608
http://dx.doi.org/10.22074/cellj.2018.5090.

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5893302/
https://www.ncbi.nlm.nih.gov/pubmed/29633608
http://dx.doi.org/10.22074/cellj.2018.5090.

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