[HTML][HTML] 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 …
[HTML][HTML] Cleft Palate and Aortic Dilatation as Clues for Loeys–Dietz Syndrome
Loeys–Dietz syndrome (LDS) is a rare autosomal-dominant disorder of the connective tissue
with some typical vascular findings, skeletal manifestations, craniofacial features, and …
with some typical vascular findings, skeletal manifestations, craniofacial features, and …
Loeys–Dietz syndrome in a Southeast Asian Hospital: a case series
Loeys–Dietz syndrome (LDS) is a heritable connective tissue disease in which the activity of
the transforming growth factor (TGF) beta signalling pathway is disrupted. The clinical …
the transforming growth factor (TGF) beta signalling pathway is disrupted. The clinical …
Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation
I Valenzuela, P Fernández-Alvarez, F Munell… - European Journal of …, 2017 - Elsevier
Loeys–Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder
characterized mainly by cardiovascular, craniofacial and skeletal features. We report on a …
characterized mainly by cardiovascular, craniofacial and skeletal features. We report on a …
[HTML][HTML] Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients
B Drera, M Ritelli, N Zoppi, A Wischmeijer… - Orphanet Journal of …, 2009 - Springer
Abstract Background Loeys-Dietz syndrome (LDS) is a rare autosomal dominant disorder
showing the involvement of cutaneous, cardiovascular, craniofacial, and skeletal systems. In …
showing the involvement of cutaneous, cardiovascular, craniofacial, and skeletal systems. In …
Loeys–Dietz syndrome (literature review and case description)
OE Agranovich, SY Semenov… - Pediatric …, 2020 - journals.eco-vector.com
Background. The Loeys–Dietz syndrome is a rare autosomal dominant connective tissue
disorder characterized by the pathology of the cardiovascular system in combination with …
disorder characterized by the pathology of the cardiovascular system in combination with …
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 …
[HTML][HTML] Loeys-Dietz syndrome: Case report and review of the literature
Loeyz-Dietz syndrome (LDS) is a genetic connective tissue disorder characterized by
various clinical manifestations, most notably vasculopathies and skeletal abnormalities. The …
various clinical manifestations, most notably vasculopathies and skeletal abnormalities. The …
[HTML][HTML] 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) …
[HTML][HTML] 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 …
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