A novel Homozygous Mutation in SPTBN4 (Spectrin beta chain, non-erythrocytic 4) with syndromic neurodevelopmental phenotype in a consanguineous family of Saudi Origin.
Background: The genetic Neurological disorders are both clinically and genetically heterogeneous. Among them Neurodevelopmental disorder with hypotonia, neuropathy, and deafness (NEDHND, OMIM #617519) is a rare autosomal recessive genetic syndromic condition. This study is aimed to characterize the...
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| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
Discover STM Publishing Ltd
2024-02-01
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| Series: | Journal of Biochemical and Clinical Genetics |
| Subjects: | |
| Online Access: | https://www.jbcgenetics.com/?mno=233607 |
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