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Identification of a Novel Mutation in CNNM4 Gene in an Iranian Family with Jalili Syndrome

Background and Objectives: Jalili syndrome is a rare autosomal recessive genetic disorder, which so far, only 33 families with this disorder have been reported worldwide. Patients with this disease simultaneously develop cone-rod retinal dystrophy (CRD) and amelogenesis imperfecta (AI). In this stud...

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Detaylı Bibliyografya
Asıl Yazarlar: Mohammad Ghofrani, Mohammad Keramatipour
Materyal Türü: Artigo
Dil:Persa
Baskı/Yayın Bilgisi: Qom University of Medical Sciences 2019-10-01
Seri Bilgileri:Majallah-i Dānishgāh-i ̒Ulūm-i Pizishkī-i Qum
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Online Erişim:http://journal.muq.ac.ir/article-1-2321-en.html
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