Cohen sendromu
Kalıtsal - AR
Gelişme geriliği
Mikrosefali
Badem gözler
Retina distrofisi
Optik atrofi
Progressif myopi
Fasiyal hipotoni
Filtrum kısa
Maksilla hipoplazisi (mikrognati)
Dar-çukur damak
İri maksiller orta kesiciler
Aftlı stomatit
Periodontal patolojiler
Mitral kapak prolapsusu
Nötropeni
Puberteye doğru belirginleşen obezite
Skolyoz
El ve ayaklar küçük
Eklemlerde gevşeklik
Serebella hipoplazi
Epilepsi
Hipotoni
Psikomotor gerilik
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Hurmerinta K, Pirinen S, Kovero O, Kivitie-Kallio S. Craniofacial features in Cohen syndrome: an anthropometric and cephalometric analysis of 14 patients. Clinical Genetics, 62:157–164, 2002
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Chandler KE, Kidd A, Al-Gazali L, et al. Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome. Journal of Medical Genetics, 40:233–241, 2003
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Kolehmainen J, Wilkinson R, Lehesjoki AE, et al. Delineation of Cohen syndrome following a large-scale genotype-phenotype screen. American Journal of Human Genetics, 75:122–127, 2004
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Haritha A, Jayakumar A. Syndromes as they relate to periodontal disease. Periodontology 2000, 56:65–86, 2011
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Rivera-Brugues N, Albrecht B, Wieczorek D, et al. Cohen syndrome diagnosis using whole-genome arrays. Journal of Medical Genetics, 48: 136-140, 2011
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Duplomb L, Duvet S, Picot D, et al. Cohen syndrome is associated with major glycosylation defects. Human Molecular Genetics, 23: 2391-2399, 2014