Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year.
about
Marfan syndrome: current perspectivesNovel mutation in FBN1 causes ectopia lentis and varicose great saphenous vein in one Chinese autosomal dominant family.The economic impact of Marfan syndrome: a non-experimental, retrospective, population-based matched cohort study.Genetic causes of congenital diaphragmatic herniaA novel fibrillin-1 gene missense mutation associated with neonatal Marfan syndrome: a case report and review of the mutation spectrum.Neonatal marfan syndrome: report of two cases.Neonatal Marfan Syndrome: Report of a Case with an Inherited Splicing Mutation outside the Neonatal DomainCardiovascular manifestations in Marfan syndrome and related diseases; multiple genes causing similar phenotypes.Variable severity of cardiovascular phenotypes in patients with an early-onset form of Marfan syndrome harboring FBN1 mutations in exons 24-32.Congenital diaphragmatic hernias: from genes to mechanisms to therapies.A Case of Neonatal Marfan Syndrome: A Management Conundrum and the Role of a Multidisciplinary Team.Study of phenotype evolution during childhood in Marfan syndrome to improve clinical recognition.The Kid-Short Marfan Score (Kid-SMS) - an easy executable risk score for suspected paediatric patients with Marfan syndrome.NovelFBN1gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome
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P2860
Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年学术文章
@wuu
2011年学术文章
@zh
2011年学术文章
@zh-cn
2011年学术文章
@zh-hans
2011年学术文章
@zh-my
2011年学术文章
@zh-sg
2011年學術文章
@yue
2011年學術文章
@zh-hant
name
Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year.
@en
Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year.
@nl
type
label
Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year.
@en
Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year.
@nl
prefLabel
Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year.
@en
Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year.
@nl
P2093
P2860
P50
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P1476
Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year.
@en
P2093
Anne De Paepe
Anne H Child
Bertrand Chevallier
Chantal Stheneur
Christine Binquet
Claire Bonithon-Kopp
Damien Bonnet
Elodie Gautier
Guillaume Jondeau
Karin Mayer
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P2888
P304
P356
10.1203/PDR.0B013E3182097219
P407
P577
2011-03-01T00:00:00Z
P6179
1006214266