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