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Oral-Facial-Digital sendrom V

Orofaciodigital sendrom 5 (OFD V)

Thurston sendromu

Kalıtsal (Hindistan'da) - AR

Hipertelorizm

Üst dudak vermilion yarığı

Dilde lobülasyon

Polidaktili

Zeka geriliği

 

  • Toriello HV. Oral-facial-digital syndromes. Clinical Dysmorphology, 2: 95-105, 1993

  • Siebert JR. The oral-facial-digital syndromes. Handbook of Clinical Neurology, 87:341-351, 2008

  • Naikmasur VG, Rai A, Revanappa MM, Mutalik S. Thurston syndrome: oral and systemic manifestations. Case report and review of the literature. Quintessence International, 41(4):e75-79, 2010

  • Shamseldin HE, Rajab A, Alhashem A, et al. Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome. American Journal of Human Genetics, 555-560, 2013

  • Bruel A-L, Franco B, Duffourd Y, et al. Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes. Journal of Medical Genetics, 54: 371-380, 2017

 

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