An enormous Italian pedigree of Marfan syndrome with a novel mutation in the FBN1 gene

Autor:	Federica Sangiuolo, Giuseppe Novelli, Antonio Pizzuti, Leila B. Salehi, Omid Daneshjoo
Jazyk:	angličtina
Rok vydání:	2020
Předmět:	Marfan syndrome musculoskeletal diseases congenital hereditary and neonatal diseases and abnormalities lcsh:Medicine Case Report Case Reports 030204 cardiovascular system & hematology 03 medical and health sciences 0302 clinical medicine Medicine cardiovascular diseases FBN1 skin and connective tissue diseases Gene Genetics lcsh:R5-920 Splice site mutation business.industry lcsh:R General Medicine medicine.disease Phenotype Settore MED/03 030220 oncology & carcinogenesis NGS Mutation (genetic algorithm) mutation lcsh:Medicine (General) business Novel mutation
Zdroj:	Clinical Case Reports Clinical Case Reports, Vol 8, Iss 8, Pp 1445-1451 (2020)
ISSN:	2050-0904
Popis:	We characterize a large Italian family presenting with Marfan syndrome (MFS), where the same NM_000138.4:c.6872‐1G > T splice site mutation in the FBN1 gene was detected in 37 affected individuals with different pathological phenotypes. Further studies on such a large pedigree could identify other genetic factors that influence MFS manifestation.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9cc97ad6002d620cf9e0a60e6b0d5f8 http://europepmc.org/articles/PMC7455403 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
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