Associated Papers
Ocular manifestations in pediatric tumor suppressor gene mutations: a case series and literature review of RB1, NF1, NF2, VHL, and TSC.
Wang A et al.
Bmc Pediatrics, 2025
Targeted Sequencing Detects Variants That May Contribute to the Risk of Neuropsychiatric Disorders.
Mahadevan J et al.
Indian Journal of Psychological Medicine, 2022
Clinical characteristics and NF1 gene mutation analysis of three successive generations in three different Indian families with neurofibromatosis type 1 and peripheral nerve sheath tumours.
Prasad BCM et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2018
A novel NF1 frame-shift mutation c.703_704delTA in a Chinese pedigree with neurofibromatosis type 1.
Chen J et al.
International Journal of Ophthalmology, 2018
A novel NF1 frame-shift mutation (c.702_703delGT) in a Chinese family with neurofibromatosis type 1.
Cai SP et al.
Genetics and Molecular Research : Gmr, 2014
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