Correlation between large rearrangements and patient phenotypes in NF1 deletion syndrome: an update and review
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 ho...
Source: BMC Medical Genomics - Category: Genetics & Stem Cells Authors: Laurence Pacot, Milind Girish, Samantha Knight, Gill Spurlock, Vinod Varghese, Manuela Ye, Nick Thomas, Eric Pasmant and Meena Upadhyaya Tags: Research Source Type: research