Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature Data.
Adolescent
Adult
Child
Child, Preschool
Humans
Infant
Loeys-Dietz Syndrome
/ classification
Middle Aged
Pedigree
Receptor, Transforming Growth Factor-beta Type I
/ genetics
Receptor, Transforming Growth Factor-beta Type II
/ genetics
Smad3 Protein
/ genetics
Transforming Growth Factor beta2
/ genetics
Ehlers-Danlos syndrome
Loeys-Dietz syndrome
SMAD2
SMAD3
TGFB2
TGFB3.
TGFBR1
TGFBR2
arterial aneurysms
hereditary connective tissue disorders
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
28 09 2019
28 09 2019
Historique:
received:
27
08
2019
revised:
17
09
2019
accepted:
21
09
2019
entrez:
2
10
2019
pubmed:
2
10
2019
medline:
23
2
2020
Statut:
epublish
Résumé
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 (
Identifiants
pubmed: 31569402
pii: genes10100764
doi: 10.3390/genes10100764
pmc: PMC6826414
pii:
doi:
Substances chimiques
SMAD3 protein, human
0
Smad3 Protein
0
TGFB2 protein, human
0
Transforming Growth Factor beta2
0
Receptor, Transforming Growth Factor-beta Type I
EC 2.7.11.30
Receptor, Transforming Growth Factor-beta Type II
EC 2.7.11.30
TGFBR1 protein, human
EC 2.7.11.30
TGFBR2 protein, human
EC 2.7.11.30
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Déclaration de conflit d'intérêts
All authors declare that there is no conflict of interest concerning this work.
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