CCDC82 frameshift mutation associated with intellectual disability, spastic paraparesis, and dysmorphic features
Clin Genet
.
2022 Jul;102(1):80-81.
doi: 10.1111/cge.14135.
Epub 2022 Apr 3.
Authors
Gregor Bauer
1
,
Rebecca Buchert
2
,
Tobias B Haack
2
,
Inga Harting
3
,
Alexander Gutschalk
1
Affiliations
1
Department of Neurology, University of Heidelberg, Heidelberg, Germany.
2
Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
3
Department of Neuroradiology, University of Heidelberg, Heidelberg, Germany.
PMID:
35373332
DOI:
10.1111/cge.14135
No abstract available
Publication types
Letter
MeSH terms
Exome
Frameshift Mutation / genetics
Humans
Intellectual Disability* / genetics
Mutation
Paraparesis, Spastic* / genetics
Phenotype