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New insight into clinical heterogeneity and inheritance diversity of FBLN5-related cutis laxa
BACKGROUND: FBLN5-related cutis laxa (CL) is a rare disorder that involves elastic fiber-enriched tissues and is characterized by lax skin and variable systemic involvement such as pulmonary emphysema, arterial involvement, inguinal hernias, hollow viscus diverticula and pyloric stenosis. This type...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7845118/ https://www.ncbi.nlm.nih.gov/pubmed/33509220 http://dx.doi.org/10.1186/s13023-021-01696-6 |