Publications by authors named "Coralie Dauge"
Objectives: The antenatal phenotypic spectrum of Noonan Syndrome (NS) requires better characterization.
Methods: This multicenter retrospective observational included 16 fetuses with molecularly confirmed NS admitted for fetopathological examination between 2009 and 2016.
Results: Among 12 pathogenic variants (PV) in PTPN11 (80%), 5 (42%) fell between position c.
Article Synopsis
- Megacystis-microcolon-intestinal-hypoperistalsis syndrome (MMIHS) is a rare genetic disorder causing severe abdominal swelling, a small colon, and reduced movement in the intestines, often linked to mutations in the ACTG2 gene.
- Recent findings have also identified additional mutations in other genes such as MYH11, MYLK, and a potential new gene PDCL3 that may be involved in the condition.
- Research on five patients revealed multiple genetic variants, including a complete absence of PDCL3 expression in affected individuals, suggesting it plays an important role in the disorder due to its involvement in smooth muscle contractility.
Infantile hemangioma (IH) is the most common benign vascular tumor of infancy, occurring predominantly in the head and neck. It is characterized by specific endothelial expression of glucose transporter-1 (GLUT-1) and involution with time, spontaneous or on beta-blockers treatment. Although some predisposing factors are known, the exact pathogenesis remains unclear.
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