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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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Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Kumar, Kishore, Bellad, Anikha, Prasad, Pramada, Girimaji, Satish Chandra, Muthusamy, Babylakshmi
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2020
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Acesso em linha: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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