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 - 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
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