TY  - GEN
AU  - Matthews,A M
AU  - Tarailo-Graovac,M
AU  - Price,E M
AU  - Blydt-Hansen,I
AU  - Ghani,A
AU  - Drögemöller,B I
AU  - Robinson,W P
AU  - Ross,C J
AU  - Wasserman,W W
AU  - Siden,H
AU  - van Karnebeek,C D
TI  - 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
SN  - 1878-0849
PY  - 2017///1207
KW  - Autism Spectrum Disorder
KW  - diagnosis
KW  - Autistic Disorder
KW  - Child
KW  - Chromosome Deletion
KW  - Chromosome Duplication
KW  - Chromosomes, Human, Pair 1
KW  - genetics
KW  - Heart Defects, Congenital
KW  - Humans
KW  - Intellectual Disability
KW  - Male
KW  - Mosaicism
KW  - Mutation, Missense
KW  - Paraplegia
KW  - Paternal Inheritance
KW  - Phenotype
KW  - Spastin
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1016/j.ejmg.2017.07.015
ER  -