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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| Principais autores: | , |
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| Formato: | Artigo |
| Idioma: | Persa |
| Publicado em: |
Qom University of Medical Sciences
2019-10-01
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| coleção: | Majallah-i Dānishgāh-i ̒Ulūm-i Pizishkī-i Qum |
| Assuntos: | |
| Acesso em linha: | http://journal.muq.ac.ir/article-1-2321-en.html |
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