Non-functional alternative splicing caused by a Latino pathogenic variant in a case of PMM2-CDG
We report on a Mexican mestizo with a multisystemic syndrome including neurological involvement and a type I serum transferrin isoelectric focusing (Tf IEF) pattern. Diagnosis of PMM2-CDG was obtained by clinical exome sequencing (CES) that revealed compound heterozygous variants in PMM2, the encodi...
Main Authors: | , , , , , , , , , , , , , , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
Elsevier
2021-09-01
|
Series: | Molecular Genetics and Metabolism Reports |
Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426921000756 |