New insight into clinical heterogeneity and inheritance diversity of FBLN5-related cutis laxa

New insight into clinical heterogeneity and inheritance diversity of FBLN5-related cutis laxa

Abstract 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. Th...

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Main Authors: Jalal Gharesouran, Hassan Hosseinzadeh, Soudeh Ghafouri-Fard, Yalda Jabbari Moghadam, Javad Ahmadian Heris, Amir Hossein Jafari-Rouhi, Mohammad Taheri, Maryam Rezazadeh
Format: Article
Language:English
Published: BMC 2021-01-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Cutis laxa
FBLN5
Fibulin-5
WES
Autosomal recessive
Online Access:https://doi.org/10.1186/s13023-021-01696-6

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