Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder
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F. Muntoni | Silvio Alessandro Di Gioia | A. O’Donnell-Luria | J. Christodoulou | E. Engle | P. Munot | A. Manzur | E. England | Wai-Man Chan | S. DiTroia | L. Pais | A. Sarkozy | J. Elder | Lucy Feng | A. Yeung | R. Phadke | B. Barry | I. Zaharieva | D. Natera-de Benito | Eleanor Hay | J. Jurgens | V. Pini | David G Hunter | D. Ledoux | Eleanor M. Hay | Wai-Man Chan