Genetic evaluation of 50 Turkish patients with neurofibromatosis type 1: 2  years experience of a single center

CONCLUSIONS: Early sequencing in all suspected patients followed by deletion/duplication analysis in patients meeting clinical criteria and a case-to-case based consideration for RNA studies seems to be the effective algorithm for NF-1 diagnosis.PMID:37280783 | DOI:10.1002/jdn.10278

Source: International Journal of Developmental Neuroscience - June 7, 2023 Category: Neuroscience Authors: Mehmet Kocabey Hande Özkalaycı Tufan Çankaya Ceren Y ılmaz Uzman Ahmet Okay Çağlayan Ayfer Ülgenalp Murat Derya Er çal Source Type: research