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Identification of a novel truncating variant in AHI1 gene and a brief review on mutations spectrum |
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| Authors: | Karamzade Arezou Babaei Meisam Saberi Mohammad Golchin Neda Khalil Nejad Sani Banaei Aysun Eshaghkhani Yeganeh Golchehre Zahra Keramatipour Mohammad |
| Institution: | 1.Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran ;2.Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd, Iran ;3.Watson Genetic Laboratory, North Kargar street, Tehran, Iran ; |
| Abstract: | Molecular Biology Reports - Joubert syndrome (JS) is a rare inherited neurodevelopmental condition characterized by hypotonia, ataxia, developmental delay, abnormal eye movements, neonatal... |
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