Publications by authors named "C Muti"
Article Synopsis
- * A study examined 131 female patients with X-linked dominant incontinentia pigmenti (IP), finding that 36% produced autoantibodies against IFN-α and/or IFN-ω, significantly higher than age-matched controls.
- * The presence of these autoantibodies is linked to an abnormally small thymus and predisposes patients to life-threatening viral infections, while those without these autoantibodies do not face the same risk.
Article Synopsis
- - The study focused on collecting and analyzing cases of fetuses with 7q11.23 copy number variations (CNVs), specifically Williams-Beuren syndrome (WBS) and 7q11.23 duplication, to enhance understanding of their prenatal features.
- - Researchers gathered clinical and ultrasound data from 40 fetuses with WBS, finding that common issues included intra-uterine growth retardation (IUGR), cardiovascular defects, and other notable signs.
- - The findings confirm that 7q11.23 CNVs lead to a variety of prenatal presentations, with IUGR and cardiovascular issues being the most prevalent, aiming to help identify distinctive signs in affected fetuses.
MAN1B1-CDG: Three new individuals and associated biochemical profiles.
Mol Genet Metab Rep
September 2021
Congenital disorders of glycosylation (CDG) constitute an ever-growing group of genetic diseases affecting the glycosylation of proteins. CDG individuals usually present with severe multisystem disorders. MAN1B1-CDG is a CDG with nonspecific clinical symptoms such as intellectual deficiency and developmental delay.
View Article and Find Full Text PDFHypophosphatasia (HPP) is a rare inherited disease affecting bone and dental mineralization due to loss-of-function mutations in the ALPL gene encoding the tissue nonspecific alkaline phosphatase (TNSALP). Prenatal benign HPP (PB HPP) is a rare form of HPP characterized by in utero skeletal manifestations that progressively improve during pregnancy but often still leave symptoms after birth. Because the prenatal context limits the diagnostic tools, the main difficulty for clinicians is to distinguish PB HPP from perinatal lethal HPP, the most severe form of HPP.
View Article and Find Full Text PDFHypophosphatasia (HPP) is caused by pathogenic variants in the ALPL gene. There is a large continuum in the severity, ranging from a lethal perinatal form to dental issues. We analyzed a cohort of 424 HPP patients from European geographic origin or ancestry.
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