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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...

Whakaahuatanga katoa

I tiakina i:
Ngā taipitopito rārangi puna kōrero
Ngā kaituhi matua: Mohammad Ghofrani, Mohammad Keramatipour
Hōputu: Artigo
Reo:Persa
I whakaputaina: Qom University of Medical Sciences 2019-10-01
Rangatū:Majallah-i Dānishgāh-i ̒Ulūm-i Pizishkī-i Qum
Ngā marau:
Urunga tuihono:http://journal.muq.ac.ir/article-1-2321-en.html
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