FBN2 pathogenic variants in congenital contractural arachnodactyly with severe cardiovascular manifestations
CONCLUSIONS: This study enriched the pathogenic spectrum of CCA and identified a hotspot region in FBN2 gene associated with severe cardiovascular manifestations. We recommend that patients carrying pathogenic variants in exons 31 to 35 of FBN2 pay more attention to cardiac evaluation.PMID:38602424 | DOI:10.1080/03008207.2024.2340004 (Source: Connective Tissue Research)
Source: Connective Tissue Research - April 11, 2024 Category: Research Authors: Shulin Yang Zongzhe Li Source Type: research
Influencing factors of effective lens position in patients with Marfan syndrome and ectopia lentis
CONCLUSION: This study provides novel insights into the origin of PE in patients with MFS and EL and potentially refines existing formulas.PMID:38604620 | DOI:10.1136/bjo-2023-325017 (Source: The British Journal of Ophthalmology)
Source: The British Journal of Ophthalmology - April 11, 2024 Category: Opthalmology Authors: Xin Shen Zexu Chen WanNan Jia Yalei Wang Tianhui Chen Yang Sun Yongxiang Jiang Source Type: research
FBN2 pathogenic variants in congenital contractural arachnodactyly with severe cardiovascular manifestations
CONCLUSIONS: This study enriched the pathogenic spectrum of CCA and identified a hotspot region in FBN2 gene associated with severe cardiovascular manifestations. We recommend that patients carrying pathogenic variants in exons 31 to 35 of FBN2 pay more attention to cardiac evaluation.PMID:38602424 | DOI:10.1080/03008207.2024.2340004 (Source: Connective Tissue Research)
Source: Connective Tissue Research - April 11, 2024 Category: Research Authors: Shulin Yang Zongzhe Li Source Type: research
Influencing factors of effective lens position in patients with Marfan syndrome and ectopia lentis
CONCLUSION: This study provides novel insights into the origin of PE in patients with MFS and EL and potentially refines existing formulas.PMID:38604620 | DOI:10.1136/bjo-2023-325017 (Source: The British Journal of Ophthalmology)
Source: The British Journal of Ophthalmology - April 11, 2024 Category: Opthalmology Authors: Xin Shen Zexu Chen WanNan Jia Yalei Wang Tianhui Chen Yang Sun Yongxiang Jiang Source Type: research
FBN2 pathogenic variants in congenital contractural arachnodactyly with severe cardiovascular manifestations
CONCLUSIONS: This study enriched the pathogenic spectrum of CCA and identified a hotspot region in FBN2 gene associated with severe cardiovascular manifestations. We recommend that patients carrying pathogenic variants in exons 31 to 35 of FBN2 pay more attention to cardiac evaluation.PMID:38602424 | DOI:10.1080/03008207.2024.2340004 (Source: Connective Tissue Research)
Source: Connective Tissue Research - April 11, 2024 Category: Research Authors: Shulin Yang Zongzhe Li Source Type: research
