Article
A novel frameshift c.22_25dupGCAT mutation of the NDP gene in a Chinese infant with Norrie disease: A case report.
Medicine - 7 Jan 2022
Wang He, Liu Zeyuan, Zhou Yuantao, Ma Yuanyuan, Tao Dan
Abstract excerpt
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 a novel mutation in NDP and elucidate the clinical and molecular characteristics of this patient. PATIENT CONCERNS:...
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