Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) initially diagnosed as ALG6-CDG: Functional evidence for benignity of the ALG6 c.391T>C (p.Tyr131His) variant and further expanding the BBSOAS phenotype
- Resource Type
- Article
- Source
- In
European Journal of Medical Genetics July 2020 63(7) - Subject
- Language
- ISSN
- 1769-7212