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High success in the etiology determination of skeletal dysplasias from a custom NGS panel and identification of a gene related to Beemer-Langer syndrome

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Author(s):
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Silveira, K. C. ; Moreno, C. A. ; Sanseverino, M. ; Ribeiro, E. M. ; Mellado, C. ; Buck, C. O. B. ; Bernardi, P. ; Goncalves, N. ; Oliveira, G. M. ; Llerena, J., Jr. ; Cosentino, V. ; Artigalas, O. A. P. ; Rittler, M. ; Cavalcanti, D. P.
Total Authors: 14
Document type: Journal article
Source: European Journal of Human Genetics; v. 26, p. 1-pg., 2018-10-01.
FAPESP's process: 15/22145-6 - Contribution to the clinical and etiological study of the skeletal dysplasias and dysostosis in Brazil
Grantee:Denise Pontes Cavalcanti
Support Opportunities: Regular Research Grants