Homozygous PIGT Mutation Lead to Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3

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Li Yang; Jing Peng; Xiao-Meng Yin; Nan Pang; Chen Chen; Teng-Hui Wu; Xiao-Min Zou; Fei Yin; Fei Yin;
(2018)

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 dev... View more
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