A c.3037G>A mutation in FBN1 gene causing Marfan syndrome with an atypically severe phenotype. | Invest Clin;58(1): 70-8, 2017 Mar. | MEDLINE

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A c.3037G>A mutation in FBN1 gene causing Marfan syndrome with an atypically severe phenotype.

Callea, Michele; Eric Willoughby, Colin; Camarata-Scalisi, Francisco; Giovannoni, Isabella; Vinciguerra, Agatino; Yavuz, Izzet; Di Stazio, Mariateresa; Di Iorio, Enzo; Clarich, Gabriella; Benettoni, Alessandra; Galeotti, Angela; Bellacchio, Emanuele.

Invest Clin ; 58(1): 70-8, 2017 Mar.

Article in En | MEDLINE | ID: mdl-29939511

Subject(s)

Fibrillin-1/genetics; Marfan Syndrome/genetics; Mutation; Adult; Humans; Male; Phenotype; Severity of Illness Index

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Collection: 01-internacional Database: MEDLINE Main subject: Fibrillin-1 / Marfan Syndrome / Mutation Type of study: Prognostic_studies Limits: Adult / Humans / Male Language: En Journal: Invest Clin Year: 2017 Document type: Article Country of publication: Venezuela

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Collection: 01-internacional Database: MEDLINE Main subject: Fibrillin-1 / Marfan Syndrome / Mutation Type of study: Prognostic_studies Limits: Adult / Humans / Male Language: En Journal: Invest Clin Year: 2017 Document type: Article Country of publication: Venezuela