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Jalili sendromu

Kalıtsal -AR

Göz anomalileri

Görme sorunları

Amelogenesis imperfecta

Dişlerde koyu kahverengi boyanma

Çürükler

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• 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

 

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