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Deletion as novel variants in VPS13B gene in Cohen syndrome: Case series
BACKGROUND: Cohen syndrome (OMIM No. # 216550) is a rare autosomal recessive disorder caused by homozygous mutation in the vacuolar protein sorting 13 homolog B (VPS13B) gene on chromosome 8q22.2. Clinical manifestations include hypermobile joints, microcephaly, intellectual disabilities, craniofaci...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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De Gruyter
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10487392/ https://www.ncbi.nlm.nih.gov/pubmed/37692084 http://dx.doi.org/10.1515/tnsci-2022-0304 |