Case Report: A Relatively Mild Phenotype Produced by Novel Mutations in the SEPSECS Gene
Mutations in the human O-phosphoseryl-tRNA:selenocysteinyl-tRNA synthase gene (SEPSECS) are associated with progressive cerebello-cerebral atrophy (PCCA), also known as pontocerebellar hypoplasia type 2D (PCH2D). Early-onset profound developmental delay, progressive microcephaly, and hypotonia that...
Saved in:
| Main Authors: | , , , , , , , |
|---|---|
| Format: | Book |
| Published: |
Frontiers Media S.A.,
2022-01-01T00:00:00Z.
|
| Subjects: | |
| Online Access: | Connect to this object online. |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|