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KIAA1109 gene mutation in surviving patients with Alkuraya-Kučinskas syndrome: a review of literature
BACKGROUND: Alkuraya-Kučinskas syndrome is an autosomal recessive disorder characterized by brain abnormalities associated with cerebral parenchymal underdevelopment, arthrogryposis, club foot and global developmental delay. KIAA1109, a functionally uncharacterized gene is identified as the molecula...
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| Publicat a: | BMC Med Genet |
|---|---|
| Autors principals: | , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BioMed Central
2020
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7318400/ https://ncbi.nlm.nih.gov/pubmed/32590954 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-020-01074-2 |
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