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A Novel Homozygous VPS13B Splice-Site Mutation Causing the Skipping of Exon 38 in a Chinese Family With Cohen Syndrome
Background: Cohen syndrome (CS) is a clinically heterogeneous disorder characterized by extensive phenotypic variation with autosomal recessive inheritance. VPS13B was identified to be the disease-causing gene for CS. The objectives of the present study were to screen likely pathogenic mutations of...
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| Wydane w: | Front Pediatr |
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| Główni autorzy: | , , , , |
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
Frontiers Media S.A.
2021
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8093766/ https://ncbi.nlm.nih.gov/pubmed/33959574 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2021.651621 |
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