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Nance-Horan sendromu

Mesiodens-katarakt sendromu

Kalıtsal - XLD

Erkeklerdeki bulgular çok belirgin

Belirgin burun yapısı

Kepçe kulaklar

Konjenital katarakt

Mikrokornea

Glokom

Nistagmus

Dar-uzun yüz

Süpernümerer kesiciler (mesiodens)

Diastema

Kesicilerde tornavidamsı kuron

Azılarda artı tüberkül

Taurodontism

Kısa-kalın parmaklar

Zeka geriliği

Otizm

 

  • Walpole IR, Hockey A, Nicoll A. The Nance-Horan syndrome. Journal of Medical Genetics, 27: 632-634, 1990

  • Burdon KP, McKay JD, Sale MM, et al. Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation. American Journal of Human Genetics,  73: 1120-1130, 2003

  • Florijn RJ, Loves W, Maillette de Buy Wenniger-Prick LJJM, et al. New mutations in the NHS gene in Nance-Horan syndrome families from the Netherlands. European Journal of Human Genetics, 14: 986-990, 2006

  • Ding X, Patel M, Herzlich AA, et al. Ophthalmic pathology of Nance-Horan syndrome: case report and review of the literature. Ophthalmic Genetics, 30(3):127-135, 2009

  • Bernier FP, Caluseriu O, Ng S, et al. Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. American Journal of Human Genetics, 90: 925-933, 2012

  • Tuğ E, Dilek NF, Javadiyan S, et al. A Turkish family with Nance-Horan syndrome due to a novel mutation. Gene, 525 (1):141-145, 2013

  • Petit F, Escande F, Jourdain AS, et al. Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause. Clinical Genetics, 86: 246-251, 2014

  • Li A, Li B, Wu L, et al, Z. Identification of a novel NHS mutation in a Chinese family with Nance-Horan syndrome. Current Eye Research, 40: 434-438, 2015

  • Lubinsky M, Kantaputra PN. Syndromes with supernumerary teeth. American Journal of Medical Genetics A, 170(10):2611-2616, 2016

  • Gjorup H, Haubek D, Jacobsen P, Ostergaard JR. Nance–Horan Syndrome-The oral perspective on a rare disease. American Journal of Medical Genetics, 173A:88–98, 2017

 

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