Correlation between large rearrangements and patient phenotypes in NF1 deletion syndrome: an update and review

Correlation between large rearrangements and patient phenotypes in NF1 deletion syndrome: an update and review

Abstract About 5–10% of neurofibromatosis type 1 (NF1) patients exhibit large genomic germline deletions that remove the NF1 gene and its flanking regions. The most frequent NF1 large deletion is 1.4 Mb, resulting from homologous recombination between two low copy repeats. This “type-1” deletion is...

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Bibliographic Details
Main Authors: Laurence Pacot, Milind Girish, Samantha Knight, Gill Spurlock, Vinod Varghese, Manuela Ye, Nick Thomas, Eric Pasmant, Meena Upadhyaya
Format: Article
Language:English
Published: BMC 2024-03-01
Series:BMC Medical Genomics
Subjects:
Neurofibromatosis type 1
NF1
Deletion
CNV
Genotype-phenotype correlation
Online Access:https://doi.org/10.1186/s12920-024-01843-5

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