COL4A1 mutation‐related disorder presenting as fetal intracranial bleeding, hydrocephalus, and polymicrogyria
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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.… read more here.
Keywords: mutation related; intracranial bleeding; fetal intracranial; col4a1 mutation ... See more keywords
Initial sirolimus dosage recommendations for pediatric patients with PIK3CD mutation-related immunodeficiency disease
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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… read more here.
Keywords: related immunodeficiency; pik3cd mutation; pediatric patients; mutation related ... See more keywords