Mutation analysis and clinical profile of South African patients with Neurofibromatosis type 1 (NF1) phenotype

Mutation analysis and clinical profile of South African patients with Neurofibromatosis type 1 (NF1) phenotype

Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic condition with complete age-dependent penetrance, variable expressivity and a global prevalence of ∼1/3,000. It is characteriszed by numerous café-au-lait macules, skin freckling in the inguinal or axillary regions, Lisch nodules of the...

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Bibliographic Details
Main Authors: Maria Mabyalwa Mudau, Bronwyn Dillon, Clarice Smal, Candice Feben, Engela Honey, Nadia Carstens, Amanda Krause
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-03-01
Series:Frontiers in Genetics
Subjects:
Neurofibramotosis type 1
single nucleotide variant (SNV)
copy number variants (CNV)
next generating sequencing
MLPA (multiplex ligation-dependent probe amplification)
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2024.1331278/full

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https://www.frontiersin.org/articles/10.3389/fgene.2024.1331278/full

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