Jalili sendromu
Kalıtsal -AR
Göz anomalileri
Görme sorunları
Amelogenesis imperfecta
Dişlerde koyu kahverengi boyanma
Çürükler
-
Jalili IK, Smith NJD. A progressive cone-rod dystrophy and amelogenesis imperfecta: a new syndrome. Journal of Medical Genetics, 25: 738-740, 1988
-
Michaelides M, Bloch-Zupan A, Holder GE, et al. An autosomal recessive cone-rod dystrophy associated with amelogenesis imperfecta. (Letter) Journal of Medical Genetics, 41: 468-473, 2004
-
Polok B, Escher P, Ambresin A, et al. Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta. American Journal of Human Genetics, 84: 259-265, 2009
-
Jalili IK. Cone-rod dystrophy and amelogenesis imperfecta (Jalili syndrome): phenotypes and environs. Eye, 24: 1659-1668, 2010