Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies

The skeletal ciliopathies are a heterogeneous group of disorders with a significant clinical and genetic variability and the main clinical features are thoracic hypoplasia and short tubular bones. To date, 25 genes have been identified in association with skeletal ciliopathies. Mutations in the KIAA...

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Detalles Bibliográficos
Autores principales: Hammarsjö, A., Wang, Z., Vaz, R., Taylan, F., Sedghi, M., Girisha, K. M., Chitayat, D., Neethukrishna, K., Shannon, P., Godoy, R., Gowrishankar, K., Lindstrand, A., Nasiri, J., Baktashian, M., Newton, P. T., Guo, L., Hofmeister, W., Pettersson, M., Chagin, A. S., Nishimura, G., Yan, L., Matsumoto, N., Nordgren, A., Miyake, N., Grigelioniene, G., Ikegawa, S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5686170/
https://www.ncbi.nlm.nih.gov/pubmed/29138412
http://dx.doi.org/10.1038/s41598-017-15442-1

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