Case report and literature review: Novel compound heterozygous FIG4 variants causing both of peripheral and central nervous system defects
BackgroundPathogenic variants in the FIG4 gene have been described to be associated with a diverse spectrum of syndromes, such as autosomal recessive bilateral temporooccipital polymicrogyria (OMIM 612691), autosomal dominant amyotrophic lateral sclerosis-11 (ALS11; OMIM 612577), autosomal recessive...
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| Main Authors: | , , , , , , |
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| Format: | Book |
| Published: |
Frontiers Media S.A.,
2022-10-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |