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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.
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

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

Medicine & Health Published 2026 Verification Pending

Overview & Synopsis

Open access biomedical research article published in BMC Pediatr.

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Indexed from repository: PubMed Central (pmc.ncbi.nlm.nih.gov)
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Document Title 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
Subject & Discipline BMC Pediatr
Categories Medicine & Health
Publication Year 2026
License / Rights Open Access / Creative Commons
Resource Verification Listed PDF (Verification Pending)
Original Host Website PubMed Central (pmc.ncbi.nlm.nih.gov)
File Format application/pdf (Portable Document Format)
Language EN
Catalog ID DOC-33617
Original Source Link Visit Source Page on pmc.ncbi.nlm.nih.gov »