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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| 主要な著者: | , |
|---|---|
| フォーマット: | Artigo |
| 言語: | Persa |
| 出版事項: |
Qom University of Medical Sciences
2019-10-01
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| シリーズ: | Majallah-i Dānishgāh-i ̒Ulūm-i Pizishkī-i Qum |
| 主題: | |
| オンライン･アクセス: | http://journal.muq.ac.ir/article-1-2321-en.html |
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