Quantifying the Genetic Basis of Marfan Syndrome Clinical Variability

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Grange, Thomas, Aubart, Mélodie, Langeois, Maud, Benarroch, Louise, Arnaud, Pauline, Milleron, Olivier, Eliahou, Ludivine, Gross, Marie-Sylvie, Hanna, Nadine, Boileau, Catherine, Gouya, Laurent, Jondeau, Guillaume
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7288268/
https://www.ncbi.nlm.nih.gov/pubmed/32443863
http://dx.doi.org/10.3390/genes11050574

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7288268/
https://www.ncbi.nlm.nih.gov/pubmed/32443863
http://dx.doi.org/10.3390/genes11050574

Ejemplares similares