A new sporadic case of early-onset Loeys-Dietz syndrome due to the recurrent mutation p.R528C in the TGFBR2 gene substantiates interindividual clinical variability.

A new sporadic case of early-onset Loeys-Dietz syndrome due to the recurrent mutation p.R528C in the TGFBR2 gene substantiates interindividual clinical variability.

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http://www.wikidata.org/entity/Q37624362
Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome.TGFBR1 mutations associated with Loeys-Dietz syndrome are inactivating.Genotype-phenotype analysis of F-helix mutations at the kinase domain of TGFBR2, including a type 2 Marfan syndrome familial study.N-(2-Aminoethyl) Ethanolamine-Induced Morphological, Biochemical, and Biophysical Alterations in Vascular Matrix Associated With Dissecting Aortic Aneurysm.A sporadic case of Loeys-Dietz syndrome type I with two novel mutations of the TGFBR2 gene.Imaging and clinical features in a child with Loeys-Dietz syndrome. A case report.Molecular analysis of coronal perisutural tissues in a craniosynostotic rabbit model using polymerase chain reaction suppression subtractive hybridization.Cloning of TgfβR1 and TgfβR2 and Likely Exclusion as Loci of Origin in a Rabbit Craniosynostotic Model.Delivery of Transforming Growth Factor-β3 Plasmid in a Collagen Gel Inhibits Cranial Suture Fusion in Rats.Dissecting aortic aneurysm induced by N-(2-aminoethyl) ethanolamine in rat: Role of defective collagen during development.
P2860

A new sporadic case of early-onset Loeys-Dietz syndrome due to the recurrent mutation p.R528C in the TGFBR2 gene substantiates interindividual clinical variability.

Item
http://www.wikidata.org/entity/Q37624362
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on January 2009
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
A new sporadic case of early-o ...... dividual clinical variability.
@en
A new sporadic case of early-o ...... dividual clinical variability.
@nl
type
label
A new sporadic case of early-o ...... dividual clinical variability.
@en
A new sporadic case of early-o ...... dividual clinical variability.
@nl
prefLabel
A new sporadic case of early-o ...... dividual clinical variability.
@en
A new sporadic case of early-o ...... dividual clinical variability.
@nl
P1433
P1476
P2093
P2888
P304
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P356
P433
P478
P577
P5875
P698
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P1433
P1476
A new sporadic case of early-o ...... dividual clinical variability.
@en
P2093
P2888
P304
P31
P356
P433
P478
P577
P5875
P698