Urofacial sendrom

Ochoa sendromu

Kalıtsal - AR

Garip yüz yapısı

Gülerken ağlayan yüz izlenimi

Üriner sistem anomalileri

Üriner sistem infeksiyonları

 

• Chauve X, Missirian C, Malzac P, et al. Genetic homogeneity of the urofacial (Ochoa) syndrome confirmed in a new French family. American Journal of Medical Genetics, 95: 10-12, 2000

• Derbent M, Melek E, Arman A, et al. Urofacial (Ochoa) syndrome: can a facial gestalt represent severe voiding dysfunction? Renal Failure, 31: 589-592, 2009

• Daly SB, Urquhart JE, Hilton E, et al. Mutations in HPSE2 cause urofacial syndrome. American Journal of Human Genetics, 86: 963-969, 2010

• Aydoğdu O, Burgu B, Demirel F, et al. Ochoasyndrome: a spectrum of urofacial syndrome. European Journal of Pediatrics, 169: 431-435, 2010

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