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 identified...

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Detalles Bibliográficos
Autores principales: Yang, Li, Peng, Jing, Yin, Xiao-Meng, Pang, Nan, Chen, Chen, Wu, Teng-Hui, Zou, Xiao-Min, Yin, Fei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5951959/
https://www.ncbi.nlm.nih.gov/pubmed/29868109
http://dx.doi.org/10.3389/fgene.2018.00153

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5951959/
https://www.ncbi.nlm.nih.gov/pubmed/29868109
http://dx.doi.org/10.3389/fgene.2018.00153

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