Arterial tortuosity syndrome in two Italian paediatric patients.
about
Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review.Medical record and imaging evaluation to identify arterial tortuosity phenotype in populations at risk for intracranial aneurysms.GLUT10 deficiency leads to oxidative stress and non-canonical αvβ3 integrin-mediated TGFβ signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblastsA rare cause of neck swelling in a child.Variants of genes encoding collagens and matrix metalloproteinase system increased the risk of aortic dissection.Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with a novel homozygous c.1411+1G>A mutation in the SLC2A10 geneClinical variability in two Macedonian families with Arterial tortuosity syndrome
P2860
Q35397090-B7986E32-22A7-494E-AFF3-573619A6144DQ35625346-210BC246-7099-4569-9352-2164A75970D4Q36252010-BC1DCF87-2D28-4915-AD55-D2C2658BD8F8Q40417001-6D1F174E-F15F-48D4-B659-B8DE9532E51EQ51263763-076514EE-34FD-4152-AC30-EBD279329484Q58545499-823DE110-BA42-4E14-A6FD-ACDCCA3DB1DFQ58695645-6967B878-0440-43F8-9BFA-18E4DC3C88C8
P2860
Arterial tortuosity syndrome in two Italian paediatric patients.
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
2009年论文
@zh
2009年论文
@zh-cn
name
Arterial tortuosity syndrome in two Italian paediatric patients.
@en
type
label
Arterial tortuosity syndrome in two Italian paediatric patients.
@en
prefLabel
Arterial tortuosity syndrome in two Italian paediatric patients.
@en
P2093
P2860
P356
P1476
Arterial tortuosity syndrome in two Italian paediatric patients.
@en
P2093
Bruno Drera
Giovanni Puppini
Mara Pilati
Marco Ritelli
Maria Antonia Prioli
Mariano Vicchio
Marina Colombi
Paolo Biban
Sergio Barlati
P2860
P2888
P356
10.1186/1750-1172-4-20
P577
2009-09-25T00:00:00Z
P5875
P6179
1003483907