Neurofibromatosis type 1: Expanded variant spectrum with multiplex ligation-dependent probe amplification and genotype-phenotype correlation in 138 Turkish patients

Author
Celkan, Tiraje
Kebudi, Rejin
TÜYSÜZ, Beyhan
Geyik, Filiz
Gunes, Nilay
Yesil, Gozde
Kasap, Busra
Metadata
Show full item record
Abstract
Objective To investigate the variant spectrum and genotype-phenotype correlations in a Turkish cohort with Neurofibromatosis Type-1 (NF1).
URI
http://hdl.handle.net/20.500.12627/171702
https://doi.org/10.1111/ahg.12422
Collections