Homozygous PIGT Mutation Lead to Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3
PIGT encodes a subunit of the glycosylphosphatidylinositol transamidase complex, which catalyzes the attachment of proteins to GPI-anchors. A homozygous PIGT variant c.550G>A (p. E184K) in a Chinese boy with multiple malformations, hypotonia, seizure and profound development delay was identif...
Main Authors: | , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Frontiers Media S.A.
2018-05-01
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Series: | Frontiers in Genetics |
Subjects: | |
Online Access: | http://journal.frontiersin.org/article/10.3389/fgene.2018.00153/full |