Publications by authors named "Liset Falcon Rodriguez"
Background: Eyelid ptosis may present with upper lid dermatochalasis and brow ptosis. When indicated, ptosis correction (PC) is advocated during upper blepharoplasty (UB). In this study, the authors aimed to report their outcomes following UB and PC.
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- SPTBN1 gene encodes βII-spectrin, crucial for forming networks at plasma membranes, and its deficiency in mice leads to significant neurodevelopmental issues.
- Heterozygous variants of SPTBN1 were identified in 29 individuals exhibiting a range of developmental challenges, including intellectual disabilities, language delays, and autistic features.
- These variants weaken βII-spectrin stability and disrupt cellular organization, establishing SPTBN1 as a key contributor to certain neurodevelopmental syndromes.