Iatreia, 1991 <p class="MsoNormal"><span style="font-size: 9pt; font-family: Arial">The Congenital Contractural Arachnodactyly Syndrome is a heredltary disorder of connective tissue characterized by multiple congenital contractures, arachnodactyly ...
Betty Nishikuni +2 more
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Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis [PDF]
, 2012 Background: Vascular elasticity is crucial for maintaining hemodynamics. Molecular mechanisms involved in human elastogenesis are incompletely understood.
Coucke, Paul +11 more
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Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections. [PDF]
, 2016 Thoracic aortic aneurysm and dissection (TAAD) is typically inherited in an autosomal dominant manner, but rare X-linked families have been described.
A Corsi +62 more
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Deregulated microRNA and mRNA expression profiles in the peripheral blood of patients with Marfan syndrome [PDF]
, 2018 Background: MicroRNAs (miRNAs) are small RNAs regulating gene expression post-transcriptionally. While acquired changes of miRNA and mRNA profiles in cancer have been extensively studied, little is known about expression changes of circulating miRNAs and
Abdul-Khaliq, Hashim +6 more
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Metastatic Hürthle cell carcinoma presenting with low free thyroxine, severe hypercalcemia and spurious growth hormone production [PDF]
, 2019 Objective: Hürthle cell tumors constitute about 5% of thyroid neoplasms. They have malignant potential, behaving very aggressively compared to other differentiated thyroid cancers. The objective of this case report is to describe a case of a Hürthle cell
Adams +31 more
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Psychological and Behavioral Characteristics of Chromosomal Anomalies and Congenital Contiguous Gene Syndrome [PDF]
, 2015 Congenital anomalies exert significant impact on individuals and their families, with particularly negative effects on their quality of life. However, studies focusing on the psychological and behavioral characteristics of children with congenital ...
Diez, Higa Midory +3 more
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Connective tissue anomalies in patients with spontaneous cervical artery dissection. [PDF]
, 2014 OBJECTIVE: To investigate the prevalence of connective tissue abnormalities in patients with spontaneous cervical artery dissections (sCeAD). METHODS: We systematically assessed clinically detectable signs of connective tissue aberration in a series of ...
A. Giossi +19 more
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Minor physical anomalies in neurodevelopmental disorders: a twin study
Child and Adolescent Psychiatry and Mental Health, 2017 Background Minor physical anomalies (MPAs) are subtle anatomical deviations in one’s appearance and may suggest altered embryogenesis. MPAs have been shown to be more common in neurodevelopmental disorders (NDDs) compared with typical development. Still,
Lynnea Myers +6 more
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New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome [PDF]
, 2014 BACKGROUND: Marfan syndrome (MFS) is a rare autosomal dominantly inherited connective tissue disorder with an estimated prevalence of 1:5,000. More than 1000 variants have been previously reported to be associated with MFS.
Ahmad Sajadieh +11 more
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A c.3037G > A mutation in FBN1 gene causing Marfan syndrome with an atypically severe phenotype. [PDF]
, 2017 Marfan syndrome is a pleiotropic connective tissue disease inherited as an autosomal dominant trait, mostly caused by mutations in the FBN1 gene, which is located on chromosome 15q21.1 and encoding fibrillin 1.
Bellacchio, Emanuele +11 more
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