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Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report
BACKGROUND: Joubert syndrome is a genetically heterogeneous autosomal recessive ciliopathy characterized by the combination of hypoplasia/aplasia of the cerebellar vermis, thickened and elongated superior cerebellar peduncles and a deep interpeduncular fossa, known as “molar tooth sign” associated w...
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| Publicado en: | BMC Med Genet |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
BioMed Central
2020
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6993522/ https://ncbi.nlm.nih.gov/pubmed/32000717 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-020-0962-0 |
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