Reversible cerebral vasoconstriction syndrome and posterior reversible encephalopathy syndrome in a boy with Loeys‐Dietz syndrome
Y Akazawa, Y Inaba, A Hachiya… - American Journal of …, 2015 - Wiley Online Library
Loeys‐Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder, caused
by heterozygous mutations in TGFBR1 or TGFBR2 and characterized by vascular …
by heterozygous mutations in TGFBR1 or TGFBR2 and characterized by vascular …
Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys‐Dietz Syndrome
MT Zimmermann, RA Urrutia… - Case reports in …, 2017 - Wiley Online Library
Loeys‐Dietz syndrome (LDS) is a connective tissue disorder characterized by vascular
findings of aneurysm and/or dissection of cerebral, thoracic, or abdominal arteries and …
findings of aneurysm and/or dissection of cerebral, thoracic, or abdominal arteries and …
Novel pathogenic TGFBR1 and SMAD3 variants identified after cerebrovascular events in adult patients with Loeys-Dietz syndrome
D Laterza, M Ritelli, A Zini, M Colombi… - European Journal of …, 2019 - Elsevier
Abstract Introduction Loeys-Dietz syndrome (LDS) is an autosomal dominant connective
tissue disorder due to heterozygous pathogenic variants in transforming growth factor beta …
tissue disorder due to heterozygous pathogenic variants in transforming growth factor beta …
Phenotypic variability and diffuse arterial lesions in a family with Loeys–Dietz syndrome type 4
JM Mazzella, M Frank, P Collignon… - Clinical …, 2017 - Wiley Online Library
Syndromic thoracic aortic aneurysm and dissection (TAAD) can suggest Marfan, vascular
Ehlers–Danlos or Loeys–Dietz (LDS) syndromes. Several of the TGFβ‐pathway‐related …
Ehlers–Danlos or Loeys–Dietz (LDS) syndromes. Several of the TGFβ‐pathway‐related …
[引用][C] Expanding the skeletal phenotype of Loeys‐Dietz syndrome
SB Sousa, K Lambot‐Juhan, M Rio… - American Journal of …, 2011 - Wiley Online Library
Loeys-Dietz syndrome (LDS, OMIM# 609192,# 610168,# 608967, and# 610380) is a
recently well-recognized entity characterized by arterial (mainly aortic) dilatations, aneurysm …
recently well-recognized entity characterized by arterial (mainly aortic) dilatations, aneurysm …
Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation
M Ritelli, N Chiarelli, C Dordoni, S Quinzani… - BMC Medical …, 2014 - Springer
Abstract Background The Loeys-Dietz syndrome (LDS) is a rare autosomal dominant
disorder characterized by thoracic aortic aneurysm and dissection and widespread systemic …
disorder characterized by thoracic aortic aneurysm and dissection and widespread systemic …
Neonatal presentation of Loeys-Dietz syndrome: two case reports and review of the literature
F Baldo, L Morra, A Feresin, F Faletra… - Italian Journal of …, 2022 - Springer
Abstract Background Loeys-Dietz syndrome (LDS) is a rare connective tissue disorder
characterized by cardiovascular manifestations, especially aortic dilatations and arterial …
characterized by cardiovascular manifestations, especially aortic dilatations and arterial …
Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys–Dietz syndrome type 1B
Y Muramatsu, T Kosho, M Magota… - American Journal of …, 2010 - Wiley Online Library
Abstract Loeys–Dietz Syndrome (LDS) is an autosomal dominant aortic aneurysm syndrome
with multisystem involvement, caused by heterozygous mutations of transforming growth …
with multisystem involvement, caused by heterozygous mutations of transforming growth …
Identification of a Pathogenic TGFBR2 Variant in a Patient With Loeys–Dietz Syndrome
X Luo, S Deng, Y Jiang, X Wang, AMA Al-Raimi… - Frontiers in …, 2020 - frontiersin.org
Loeys–Dietz syndrome (LDS) is a rare connective tissue genetic disorder that is caused by a
pathogenic variant in genes of transforming growth factor (TGF) beta receptor 1 (TGFBR1) …
pathogenic variant in genes of transforming growth factor (TGF) beta receptor 1 (TGFBR1) …
Arterial tortuosity and aneurysm in a case of Loeys-Dietz syndrome type IB with a mutation p. R537P in the TGFBR2 gene
E Kiliç, Y Alanay, E Utine, B Ozgen-Mocan… - The Turkish journal of …, 2012 - turkjpediatr.org
We report a 13-year-old girl with Loeys-Dietz syndrome (LDS) caused by a known
transforming growth factor beta receptor II (TGFBR2) gene mutation, who developed aortic …
transforming growth factor beta receptor II (TGFBR2) gene mutation, who developed aortic …
相关搜索
- patient with loeys dietz syndrome
- tgfbr2 gene loeys dietz
- aortic dissection loeys dietz
- arterial tortuosity loeys dietz
- skeletal phenotype loeys dietz
- splicing mutation loeys dietz
- rare cause loeys dietz
- proximal paraparesis loeys dietz
- smad3 variants loeys dietz
- neonatal presentation loeys dietz
- cerebrovascular events loeys dietz
- clinical findings loeys dietz
- molecular modeling loeys dietz
- italian patients loeys dietz