Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency
about
Fibrillins in TendonDeficiencies of fibrillin and decorin in fibroblast cultures of a patient with neonatal Marfan syndromeMarfan syndrome in the third Millennium.Evolving phenotype of Marfan's syndrome.Abnormal morphology of fibrillin microfibrils in fibroblast cultures from patients with neonatal Marfan syndrome.A compound-heterozygous Marfan patient: two defective fibrillin alleles result in a lethal phenotype.A group of patients with Marfan's syndrome, who have finger and toe contractures, displays tendons' alterations upon an ultrasound examination: are these features common among classical Marfan patients?A novel fibrillin-1 gene missense mutation associated with neonatal Marfan syndrome: a case report and review of the mutation spectrum.Histone Deacetylase 3 Coordinates Deacetylase-independent Epigenetic Silencing of Transforming Growth Factor-β1 (TGF-β1) to Orchestrate Second Heart Field DevelopmentGenetic alterations in syndromes with oral manifestations.Dilatation of the great arteries in an infant with marfan syndrome and ventricular septal defect.Prenatal congenital vertical talus (rocker bottom foot): a marker for multisystem anomalies.Novel exon skipping mutation in the fibrillin-1 gene: Two 'hot spots' for the neonatal Marfan syndrome
P2860
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P2860
Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency
description
1991 nî lūn-bûn
@nan
1991 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
Neonatal Marfan syndrome with ...... re cardiac valve insufficiency
@ast
Neonatal Marfan syndrome with ...... re cardiac valve insufficiency
@en
type
label
Neonatal Marfan syndrome with ...... re cardiac valve insufficiency
@ast
Neonatal Marfan syndrome with ...... re cardiac valve insufficiency
@en
prefLabel
Neonatal Marfan syndrome with ...... re cardiac valve insufficiency
@ast
Neonatal Marfan syndrome with ...... re cardiac valve insufficiency
@en
P2093
P2860
P356
P1476
Neonatal Marfan syndrome with ...... re cardiac valve insufficiency
@en
P2093
Buntinx IM
De Paepe AM
Spitaels SE
Van Reempst PJ
Willems PJ
P2860
P304
P356
10.1136/JMG.28.4.267
P407
P577
1991-04-01T00:00:00Z