Associated Papers
A comprehensive analysis of germline predisposition to early-onset ovarian cancer.
Horackova K et al.
Scientific Reports, 2024
39003285 (PubMed )
Supplement: 41598_2024_66324_MOESM1_ESM.xlsx › S3_GPV_list
Spectrum of Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 (MCAHS3) Due to Phosphatidylinositol Glycan Biosynthesis Class T (PIGT) Gene Mutations: A Narrative Review.
Ranjan A et al.
Cureus, 2024
Mystery solved after 23 years: M syndrome is PIGT-associated multiple congenital anomalies-hypotonia-seizures syndrome 3.
Nóbrega PR et al.
American Journal of Medical Genetics. Part A, 2022
Deep-Phenotyping the Less Severe Spectrum of PIGT Deficiency and Linking the Gene to Myoclonic Atonic Seizures.
Bayat A et al.
Frontiers in Genetics, 2021
Evidence of the milder phenotypic spectrum of c.1582G>A PIGT variant: Delineation based on seven novel Polish patients.
Jezela-Stanek A et al.
Clinical Genetics, 2020
PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics.
Bayat A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Case report of a child bearing a novel deleterious splicing variant in PIGT.
Mason S et al.
Medicine, 2019
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