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The genetic spectrum of NF1 variants in 10 unrelated Chinese families with neurofibromatosis type 1.

Neurosciences (Riyadh, Saudi Arabia) - 1 Jul 2024

Chen Shanshan, Cheng Hongrong, Zhao Guohua

Abstract excerpt

OBJECTIVES: To investigate the clinical and genetic features in a cohort of Chinese families with neurofibromatosis type 1 (NF1). METHODS: The clinical information of 21 patients with NF1 in 10 families was retrospectively analyzed. To broaden the genetic spectrum of NF1, multiplex ligation-dependent probe amplification analysis was performed first, followed by the whole-exome sequencing, in order to identify...

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Identifiers

PMID: 38981629
DOI: 10.17712/nsj.2024.3.20230003
PMCID: PMC11305348

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