A novel frameshift c.22_25dupGCAT mutation of the NDP gene in a Chinese infant with Norrie disease: A case report

RATIONALE: Norrie disease (ND) is a rare X-linked recessive disease characterized by bilateral congenital blindness and auditory impairments. According to the previous studies, Norrin cystine knot growth factor (NDP) gene have been found to be responsible for ND. Herein, we report a case of ND with...

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Detalles Bibliográficos
Autores principales: Wang, He, Liu, Zeyuan, Zhou, Yuantao, Ma, Yuanyuan, Tao, Dan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2022
Materias:
3500
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8735801/
https://www.ncbi.nlm.nih.gov/pubmed/35029917
http://dx.doi.org/10.1097/MD.0000000000028523

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8735801/
https://www.ncbi.nlm.nih.gov/pubmed/35029917
http://dx.doi.org/10.1097/MD.0000000000028523

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