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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Detalles Bibliográficos
Autores principales: Kumar, Kishore, Bellad, Anikha, Prasad, Pramada, Girimaji, Satish Chandra, Muthusamy, Babylakshmi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7318400/
https://www.ncbi.nlm.nih.gov/pubmed/32590954
http://dx.doi.org/10.1186/s12881-020-01074-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7318400/
https://www.ncbi.nlm.nih.gov/pubmed/32590954
http://dx.doi.org/10.1186/s12881-020-01074-2

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