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Revisiting Wiedemann-Steiner Syndrome: Novel KMT2A Variants and Broadened Clinical Spectrum.

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Title: Revisiting Wiedemann-Steiner Syndrome: Novel KMT2A Variants and Broadened Clinical Spectrum.
Authors: Manav Yiğit Z; Department of Medical Genetics, Aydın Adnan Menderes University Faculty of Medicine, Aydın, Türkiye., Mengübaş Erbaş A; Department of Medical Genetics, Aydın Adnan Menderes University Faculty of Medicine, Aydın, Türkiye., Türkyılmaz A; Department of Medical Genetics, Karadeniz Technical University Faculty of Medicine, Trabzon, Türkiye., Tekin İM; Genoks Genetic Disease Evaluation Center, Ankara, Türkiye., Yılmaz Güleç E; Department of Medical Genetics, İstanbul Medeniyet University Faculty of Medicine, İstanbul, Türkiye., Kayhan G; Department of Medical Genetics, Gazi University Faculty of Medicine, Ankara, Türkiye., Aydın Gümüş A; Clinic of Medical Genetics, University Health Sciences Türkiye, Başakşehir Çam and Sakura City Hospital, İstanbul, Türkiye., Arslan Ateş E; Department of Medical Genetics, İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, İstanbul, Türkiye., Üçtepe E; Acıbadem Labgen Genetic Diagnosis Center, İstanbul, Türkiye., Ateş K; Clinic of Medical Genetics, Sakarya Training and Research Hospital, Sakarya, Türkiye., Kazancıoğlu E; Clinic of Medical Genetics, Adıyaman Training and Research Hospital, Adıyaman, Türkiye., Uyanık B; Department of Medical Genetics, Bezmialem Vakıf University Faculty of Medicine, İstanbul, Türkiye., Çetin S; Department of Medical Genetics, İstanbul Medeniyet University Faculty of Medicine, İstanbul, Türkiye., Acır S; Department of Medical Genetics, İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, İstanbul, Türkiye., Sobu E; Department of Pediatric Endocrinology, Üsküdar University Faculty of Medicine, İstanbul, Türkiye., Kamer İ; Zatay Health Pediatric Neurology Clinic, İstanbul, Türkiye., Yeşilyurt A; Acıbadem Labgen Genetic Diagnosis Center, İstanbul, Türkiye., Çebi A; Department of Medical Genetics, Karadeniz Technical University Faculty of Medicine, Trabzon, Türkiye., Anık A; Department of Pediatric Endocrinology, Aydın Adnan Menderes University Faculty of Medicine, Aydın, Türkiye., Ayanoğlu M; Department of Pediatric Neurology, Aydın Adnan Menderes University Faculty of Medicine, Aydın, Türkiye., Ünsel Bolat G; Department of Child and Adolescent Psychiatry, Balıkesir University Faculty of Medicine, Balıkesir, Türkiye., Bozkurt G; Department of Medical Genetics, Aydın Adnan Menderes University Faculty of Medicine, Aydın, Türkiye., Bolat H; Department of Medical Genetics, Balıkesir University Faculty of Medicine, Balıkesir, Türkiye.
Source: Balkan medical journal [Balkan Med J] 2026 Feb 02; Vol. 43 (2), pp. 92-102. Date of Electronic Publication: 2025 Nov 27.
Publication Type: Journal Article; Multicenter Study
Journal Info: Publisher: Galenos Publishing House Country of Publication: Turkey NLM ID: 101571817 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2146-3131 (Electronic) Linking ISSN: 21463123 NLM ISO Abbreviation: Balkan Med J Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Revisiting Wiedemann-Steiner Syndrome: Novel KMT2A Variants and Broadened Clinical Spectrum.
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  Data: <searchLink fieldCode="AU" term="%22Manav+Yiğit+Z%22">Manav Yiğit Z</searchLink>; Department of Medical Genetics, Aydın Adnan Menderes University Faculty of Medicine, Aydın, Türkiye.<br /><searchLink fieldCode="AU" term="%22Mengübaş+Erbaş+A%22">Mengübaş Erbaş A</searchLink>; Department of Medical Genetics, Aydın Adnan Menderes University Faculty of Medicine, Aydın, Türkiye.<br /><searchLink fieldCode="AU" term="%22Türkyılmaz+A%22">Türkyılmaz A</searchLink>; Department of Medical Genetics, Karadeniz Technical University Faculty of Medicine, Trabzon, Türkiye.<br /><searchLink fieldCode="AU" term="%22Tekin+İM%22">Tekin İM</searchLink>; Genoks Genetic Disease Evaluation Center, Ankara, Türkiye.<br /><searchLink fieldCode="AU" term="%22Yılmaz+Güleç+E%22">Yılmaz Güleç E</searchLink>; Department of Medical Genetics, İstanbul Medeniyet University Faculty of Medicine, İstanbul, Türkiye.<br /><searchLink fieldCode="AU" term="%22Kayhan+G%22">Kayhan G</searchLink>; Department of Medical Genetics, Gazi University Faculty of Medicine, Ankara, Türkiye.<br /><searchLink fieldCode="AU" term="%22Aydın+Gümüş+A%22">Aydın Gümüş A</searchLink>; Clinic of Medical Genetics, University Health Sciences Türkiye, Başakşehir Çam and Sakura City Hospital, İstanbul, Türkiye.<br /><searchLink fieldCode="AU" term="%22Arslan+Ateş+E%22">Arslan Ateş E</searchLink>; Department of Medical Genetics, İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, İstanbul, Türkiye.<br /><searchLink fieldCode="AU" term="%22Üçtepe+E%22">Üçtepe E</searchLink>; Acıbadem Labgen Genetic Diagnosis Center, İstanbul, Türkiye.<br /><searchLink fieldCode="AU" term="%22Ateş+K%22">Ateş K</searchLink>; Clinic of Medical Genetics, Sakarya Training and Research Hospital, Sakarya, Türkiye.<br /><searchLink fieldCode="AU" term="%22Kazancıoğlu+E%22">Kazancıoğlu E</searchLink>; Clinic of Medical Genetics, Adıyaman Training and Research Hospital, Adıyaman, Türkiye.<br /><searchLink fieldCode="AU" term="%22Uyanık+B%22">Uyanık B</searchLink>; Department of Medical Genetics, Bezmialem Vakıf University Faculty of Medicine, İstanbul, Türkiye.<br /><searchLink fieldCode="AU" term="%22Çetin+S%22">Çetin S</searchLink>; Department of Medical Genetics, İstanbul Medeniyet University Faculty of Medicine, İstanbul, Türkiye.<br /><searchLink fieldCode="AU" term="%22Acır+S%22">Acır S</searchLink>; Department of Medical Genetics, İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, İstanbul, Türkiye.<br /><searchLink fieldCode="AU" term="%22Sobu+E%22">Sobu E</searchLink>; Department of Pediatric Endocrinology, Üsküdar University Faculty of Medicine, İstanbul, Türkiye.<br /><searchLink fieldCode="AU" term="%22Kamer+İ%22">Kamer İ</searchLink>; Zatay Health Pediatric Neurology Clinic, İstanbul, Türkiye.<br /><searchLink fieldCode="AU" term="%22Yeşilyurt+A%22">Yeşilyurt A</searchLink>; Acıbadem Labgen Genetic Diagnosis Center, İstanbul, Türkiye.<br /><searchLink fieldCode="AU" term="%22Çebi+A%22">Çebi A</searchLink>; Department of Medical Genetics, Karadeniz Technical University Faculty of Medicine, Trabzon, Türkiye.<br /><searchLink fieldCode="AU" term="%22Anık+A%22">Anık A</searchLink>; Department of Pediatric Endocrinology, Aydın Adnan Menderes University Faculty of Medicine, Aydın, Türkiye.<br /><searchLink fieldCode="AU" term="%22Ayanoğlu+M%22">Ayanoğlu M</searchLink>; Department of Pediatric Neurology, Aydın Adnan Menderes University Faculty of Medicine, Aydın, Türkiye.<br /><searchLink fieldCode="AU" term="%22Ünsel+Bolat+G%22">Ünsel Bolat G</searchLink>; Department of Child and Adolescent Psychiatry, Balıkesir University Faculty of Medicine, Balıkesir, Türkiye.<br /><searchLink fieldCode="AU" term="%22Bozkurt+G%22">Bozkurt G</searchLink>; Department of Medical Genetics, Aydın Adnan Menderes University Faculty of Medicine, Aydın, Türkiye.<br /><searchLink fieldCode="AU" term="%22Bolat+H%22">Bolat H</searchLink>; Department of Medical Genetics, Balıkesir University Faculty of Medicine, Balıkesir, Türkiye.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Galenos+Publishing+House%22">Galenos Publishing House </searchLink><i>Country of Publication: </i>Turkey <i>NLM ID: </i>101571817 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2146-3131 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2221463123%22">21463123 </searchLink><i>NLM ISO Abbreviation: </i>Balkan Med J <i>Subsets: </i>MEDLINE
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