Quantifying the Genetic Basis of Marfan Syndrome Clinical Variability.
fibrillin
heritability
marfan
modifiers
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
20 05 2020
20 05 2020
Historique:
received:
22
04
2020
revised:
09
05
2020
accepted:
15
05
2020
entrez:
24
5
2020
pubmed:
24
5
2020
medline:
17
3
2021
Statut:
epublish
Résumé
Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder with considerable inter- and intra-familial clinical variability. The contribution of inherited modifiers to variability has not been quantified. We analyzed the distribution of 23 clinical features in 1306 well-phenotyped MFS patients carrying
Identifiants
pubmed: 32443863
pii: genes11050574
doi: 10.3390/genes11050574
pmc: PMC7288268
pii:
doi:
Substances chimiques
FBN1 protein, human
0
Fibrillin-1
0
Fibrillins
0
Microfilament Proteins
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Références
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