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...

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Detaylı Bibliyografya
Yayımlandı:Orphanet J Rare Dis
Asıl Yazarlar: Gharesouran, Jalal, Hosseinzadeh, Hassan, Ghafouri-Fard, Soudeh, Jabbari Moghadam, Yalda, Ahmadian Heris, Javad, Jafari-Rouhi, Amir Hossein, Taheri, Mohammad, Rezazadeh, Maryam
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2021
Konular:
Research
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7845118/
https://ncbi.nlm.nih.gov/pubmed/33509220
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-021-01696-6
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