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.

Matthews, A M

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. [electronic resource] - European journal of medical genetics Oct 2017 - 548-552 p. digital

Publication Type: Case Reports; Journal Article

1878-0849

10.1016/j.ejmg.2017.07.015 doi


Autism Spectrum Disorder--diagnosis
Autistic Disorder--diagnosis
Child
Chromosome Deletion
Chromosome Duplication
Chromosomes, Human, Pair 1--genetics
Heart Defects, Congenital--diagnosis
Humans
Intellectual Disability--diagnosis
Male
Mosaicism
Mutation, Missense
Paraplegia--diagnosis
Paternal Inheritance
Phenotype
Spastin--genetics