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The clinical spectrum of MECP2 variants in males: a multicenter Turkish cohort of 22 probands, with implications for diagnosis and variant interpretation.

Author / Organization: Doğan Ç, Mutlu MB, Cansu A, Habiloğlu E, Öztürk M, Gümüş U, Gürler Aİ, Şahinoğlu B, Kale H, Alay MT, Sezer A, Kalaycı A, Güleç EY, Emre S, Polat H, Yiğit ZM, Bolat H, Esener Z, Akdağ DG, Bolat GÜ, Türkyılmaz A, Ayaz A, Kolkıran A, Ceylan AC, Solmaz T, Bahap Y, Cinkara N, Oğuz S, Uzay E, Güneş Sager S, Çebi AH, Demir O, Susam E, Kalay İ

File Format PDF (Portable Document Format)
Publication Year 2026
Source Host PubMed Central (pmc.ncbi.nlm.nih.gov)
License / Terms Open Access / Creative Commons

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