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

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience - 1 Aug 2023

Kocabey Mehmet, Özkalaycı Hande, Çankaya Tufan, Yılmaz Uzman Ceren, Çağlayan Ahmet Okay, Ülgenalp Ayfer, Erçal Murat Derya

Abstract excerpt

BACKGROUND/AIM: Neurofibromatosis type 1 is an autosomal dominant neurocutaneous disorder. Clinical diagnosis is difficult in early childhood, and it is possible to miss a critical interval for tumour screening. In this study, we aimed to characterize the mutational spectrum of Turkish patients and discuss the benefits of molecular testing. MATERIAL AND METHODS: Fifty individuals from 35 unrelated families were...

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PMID: 37280783
DOI: 10.1002/jdn.10278

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