CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63 Journal Article


Author(s): Marsh, Ashley P; Novarino, Gaia; Lockhart, Paul L; Leventer, Richard J
Article Title: CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63
Affiliation IST Austria
Abstract: Clinical Utility Gene Card. 1. Name of Disease (Synonyms): Pontocerebellar hypoplasia type 9 (PCH9) and spastic paraplegia-63 (SPG63). 2. OMIM# of the Disease: 615809 and 615686. 3. Name of the Analysed Genes or DNA/Chromosome Segments: AMPD2 at 1p13.3. 4. OMIM# of the Gene(s): 102771.
Journal Title: European Journal of Human Genetics
ISSN: 10184813
Publisher: Nature Publishing Group  
Date Published: 2018-08-08
Start Page: epub ahead of print
Sponsor: FP7 (Grant Agreement Number 261469)
DOI: 10.1038/s41431-018-0231-2
Open access: no