Two Novel Pathogenic FBN1 Variations and Their Phenotypic Relationship of Marfan Syndrome

scientific article published on 20 August 2020

Two Novel Pathogenic FBN1 Variations and Their Phenotypic Relationship of Marfan Syndrome is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1055/S-0040-1714092
P932PMC publication ID7490121
P698PubMed publication ID32939518

P2093author name stringHakan Gurkan
Murat Deveci
Engin Atli
Emine Ikbal Atli
Selma Demir
Sinem Yalcintepe
P2860cites workMutations of extracellular matrix components in vascular disease.Q52176075
Ruptured abdominal aortic aneurysm repair in pediatric Marfan syndrome patient.Q55174921
Frequency and Age-Related Course of Mitral Valve Dysfunction in the Marfan SyndromeQ56988722
Two rare missense mutations in the fibrillin‑1 gene associated with atypical cardiovascular manifestations in a Chinese patient affected by Marfan syndromeQ57178700
Family-based whole-exome sequencing identifies novel loss-of-function mutations of for Marfan syndromeQ59337327
Multi-exon deletions of the FBN1 gene in Marfan syndromeQ24794448
The revised Ghent nosology for the Marfan syndromeQ28286547
Management of Marfan syndromeQ34688776
A FBN1 mutation association with different phenotypes of Marfan syndrome in a Chinese familyQ39647773
A novel FBN1 mutation causes autosomal dominant Marfan syndromeQ46301340
Cardiovascular outcomes of pregnancy in Marfan's syndrome patients: A literature reviewQ46301985
P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P433issue2
P921main subjectMarfan syndromeQ208562
P304page(s)68-71
P577publication date2020-08-20
P1476titleTwo Novel Pathogenic FBN1 Variations and Their Phenotypic Relationship of Marfan Syndrome
P478volume7

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