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Published in 2022 at "Epilepsia Open"
DOI: 10.1002/epi4.12681
Abstract: Fetal intracranial hemorrhage represents a rare event with an estimated prevalence of 1:10 000 pregnancies. We report a patient diagnosed prenatally with intracranial hemorrhage and ventriculomegaly carrying a novel, previously unreported, likely pathogenic variant in COL4A1.…
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Keywords:
mutation related;
intracranial bleeding;
fetal intracranial;
col4a1 mutation ... See more keywords
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Published in 2022 at "Frontiers in Pharmacology"
DOI: 10.3389/fphar.2022.919487
Abstract: Sirolimus is used to treat pediatric patients with PIK3CD mutation-related immunodeficiency disease. However, the initial dosages of sirolimus remain undecided. The present study aims to explore initial dosages in pediatric patients with PIK3CD mutation-related immunodeficiency…
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Keywords:
related immunodeficiency;
pik3cd mutation;
pediatric patients;
mutation related ... See more keywords