Publications by authors named "Claudia G Gonzaga-Jauregui"
Article Synopsis
- Researchers studied lung development defects in neonates by analyzing samples from deceased infants with specific lung disorders.
- They found genetic variants linked to the genes TBX4 and FGF10 in over half of the cases, indicating a possible genetic basis for the lethal lung conditions.
- The study highlights the significance of TBX4-FGF10-FGFR2 signaling in lung development and provides insights into the genetic factors contributing to these severe lung abnormalities.
Purpose: Cornelia de Lange syndrome (CdLS) is a multisystem congenital anomaly disorder characterized by mental retardation, limb abnormalities, distinctive facial features, and hirsutism. Mutations in three genes involved in sister chromatid cohesion, NIPBL, SMC1A, and SMC3, account for ~55% of CdLS cases. The molecular etiology of a significant fraction of CdLS cases remains unknown.
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