Genetic analysis of 25 Chinese pedigrees with neurofibromatosis type 1 and genotype-phenotype study from an extended cohort

Genetic analysis of 25 Chinese pedigrees with neurofibromatosis type 1 and genotype-phenotype study from an extended cohort

Abstract Background To identify the genetic variants underlying neurofibromatosis type 1 (NF1) and to investigate genotype-phenotype correlations. Methods Thirty-three patients from 27 Chinese pedigrees with suspected NF1 phenotypes underwent genetic analysis. The impact of splicing variant on NF1 m...

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Bibliographic Details
Main Authors: Hongjun Fei, Xu Han, Yiyao Chen, Yan Xu, Chunxin Chang, Ming Li, Yanlin Wang, Jian Wang, Niu Li, Shuyuan Li
Format: Article
Language:English
Published: BMC 2025-05-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Neurofibromatosis type 1
Novel variants
Genotype–phenotype
Neurofibromas
Bone lesions
Online Access:https://doi.org/10.1186/s13023-025-03807-z
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https://doi.org/10.1186/s13023-025-03807-z

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