NF1 microdeletion syndrome: case report of two new patients.
Serra G, Antona V, Corsello G, Zara F, Piro E, Falsaperla R.
Serra G, et al.
Ital J Pediatr. 2019 Nov 8;45(1):138. doi: 10.1186/s13052-019-0718-7.
Ital J Pediatr. 2019.
PMID: 31703719
Free PMC article.
Array comparative genomic hybridization (a-CGH) analysis defined a 17q11.2 deletion of about 1 Mb (breakpoints at positions 29,124,299 and 30,151,654), which involved different genes (partially CRLF3, ATAD5, TEFM, ADAP2, RNF135, OMG, EVI2B, EVI2A, RAB11FIP4), including NF1 …
Array comparative genomic hybridization (a-CGH) analysis defined a 17q11.2 deletion of about 1 Mb (breakpoints at positions 29,124,299 and 3 …