Liddle syndrome is an autosomal dominant disorder ... Competing Interests: The authors declared no competing interests. Monogenic hypertension is caused by single gene mutations and accounts ...
Background Monogenic hypertension describe a series of hypertensive syndromes that are inherited by Mendelian laws. Sometimes genetic testing is required to provide evidence for their diagnoses, ...
What can Gregor Mendel’s pea plants tell us about human disease? Single gene disorders, like Huntington’s disease and cystic fibrosis, actually follow Mendelian inheritance patterns.
Recent studies have reported an increasing spectrum of human monogenic diseases that can present with IBD ... hyper- and autoinflammatory disorders as well as defects with disturbed T and B lymphocyte ...
Background Monogenic autoinflammatory diseases (AID ... clinical phenotypes in FMF (familial Mediterranean fever), CAPS (cryopyrin-associated periodic syndrome), TRAPS (tumour necrosis factor receptor ...
Conclusion: The spectrum of monogenic autoinflammatory syndromes continues to broaden. Early identification, facilitated by vigilant observation and interdepartmental collaboration, can significantly ...
Articles may include investigations of: clinical genetics as applied to the diagnosis and management of monogenic or oligogenic cardiovascular disorders; the molecular basis of complex cardiovascular ...
We believe, and have now demonstrated, that gene therapy is a rational approach for the treatment of rare monogenic diseases ... candidates for SMA, Rett syndrome, SOD1 amyotrophic lateral ...
Monogenic hypertension is caused by single gene mutations ... which suppresses plasma renin activity These disorders should be suspected in young patients with a familyhistory of hypertension ...
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