Novel in-frame deletion in MFSD8 gene revealed by trio whole exome sequencing in an Iranian affected with neuronal ceroid lipofuscinosis type 7: a case report
Abstract Background The neuronal ceroid lipofuscinoses are a group of neurodegenerative, lysosomal storage disorders. They are inherited as an autosomal recessive pattern with the exception of adult neuronal ceroid lipofuscinosis, which can be inherited in either an autosomal recessive or an autosom...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2018-09-01
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| Series: | Journal of Medical Case Reports |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s13256-018-1788-7 |