A de novo mosaic mutation in SPAST with two novel alternative alleles and chromosomal copy number variant in a boy with spastic paraplegia and autism spectrum disorder
Title:
A de novo mosaic mutation in SPAST with two novel alternative alleles and chromosomal copy number variant in a boy with spastic paraplegia and autism spectrum disorder
Author:
Matthews, A.M. Tarailo-Graovac, M. Price, E.M. Blydt-Hansen, I. Ghani, A. Drögemöller, B.I. Robinson, W.P. Ross, C.J. Wasserman, W.W. Siden, H. van Karnebeek, C.D.