Mevlana Tıp Bilimleri

1 articles published in Mevlana Tıp Bilimleri with the keyword "Noonan Syndrome": Neurofibromatosis-Noonan Syndrome, A Rare Case Report

Neurofibromatosis-Noonan Syndrome, A Rare Case Report

YEŞİM KÜÇÜKKAĞNICI, BERAY SELVER EKLİOĞLU, PELİN TAŞDEMİR, MEHMET EMRE ATABEK

Mevlana Tıp Bilimleri, 2021, Vol 1, Issue 3, Page 105-107

ABSTRACT Neurofibromatosis-Noonan syndrome is a rare disorder which shows the features of both neurofibromatosis type 1 and Noonan syndrome. Mutations in the NF1 gene were identified in majority of Neurofibromatosis-Noonan Syndrome cases. The co-occurrence of NF1 and PTPN11 mutations has been shown...

Related Keywords

NörofibromatozisNoonan Sendromucafé-au-lait lekesikısa boyNeurofibromatosis type 1café-au-lait maculesshort stature