Matthews, A M <br/><br/>
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 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1878-0849 
<br/><br/><label>Standard No.: </label>10.1016/j.ejmg.2017.07.015  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Autism Spectrum Disorder--diagnosis<br/>Autistic Disorder--diagnosis<br/>Child<br/>Chromosome Deletion<br/>Chromosome Duplication<br/>Chromosomes, Human, Pair 1--genetics<br/>Heart Defects, Congenital--diagnosis<br/>Humans<br/>Intellectual Disability--diagnosis<br/>Male<br/>Mosaicism<br/>Mutation, Missense<br/>Paraplegia--diagnosis<br/>Paternal Inheritance<br/>Phenotype<br/>Spastin--genetics