A 45-year-old Italian male with p.(Gly1815Ser) FBN1 mutation causing a mild variant of Marfan syndrome: A case study

A 45-year-old Italian male with p.(Gly1815Ser) FBN1 mutation causing a mild variant of Marfan syndrome: A case study

A 45-year-old Italian male was referred as suspected of having a heritable connective tissue disorders by clinical findings, including joint hyperlaxity and soft, smooth, velvety, and slightly elastic skin. Using a specific custom panel including genes involved in these disorders, next-generation se...

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Bibliographic Details
Main Authors: Francesca Cortini, Chiara Villa, Barbara Marinelli, Sara Franchetti, Luciano Riboldi, Alessandra Bassotti
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2020-01-01
Series:Dermatologica Sinica
Subjects:
fibrillin-1 gene
heritable connective tissue disorders
marfan syndrome
next-generation sequencing
Online Access:http://www.dermsinica.org/article.asp?issn=1027-8117;year=2020;volume=38;issue=2;spage=98;epage=101;aulast=Cortini

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http://www.dermsinica.org/article.asp?issn=1027-8117;year=2020;volume=38;issue=2;spage=98;epage=101;aulast=Cortini

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