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

• Main Authors: Laurence Pacot (Author), Milind Girish (Author), Samantha Knight (Author), Gill Spurlock (Author), Vinod Varghese (Author), Manuela Ye (Author), Nick Thomas (Author), Eric Pasmant (Author), Meena Upadhyaya (Author)
• Format: Knjiga
• Izdano: BMC, 2024-03-01T00:00:00Z.
• Teme: article
• Online dostop: Connect to this object online.

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" de...