Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature Data

Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature Data

Loeys-Dietz syndrome (LDS) is a connective tissue disorder first described in 2005 featuring aortic/arterial aneurysms, dissections, and tortuosity associated with craniofacial, osteoarticular, musculoskeletal, and cutaneous manifestations. Heterozygous mutations in 6 genes (<i>TGFBR1/2, TGFB2...

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Bibliographic Details
Main Authors: Letizia Camerota, Marco Ritelli, Anita Wischmeijer, Silvia Majore, Valeria Cinquina, Paola Fortugno, Rosanna Monetta, Laura Gigante, Marfan Syndrome Study Group Tor Vergata University Hospital, Federica Carla Sangiuolo, Giuseppe Novelli, Marina Colombi, Francesco Brancati
Format: Article
Language:English
Published: MDPI AG 2019-09-01
Series:Genes
Subjects:
hereditary connective tissue disorders
loeys-dietz syndrome
ehlers-danlos syndrome
arterial aneurysms
tgfbr1
tgfbr2
smad2
smad3
tgfb2
tgfb3.
Online Access:https://www.mdpi.com/2073-4425/10/10/764

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https://www.mdpi.com/2073-4425/10/10/764

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