TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility

Autor: Aafke Engwerda, Maarten P. van den Berg, Wilhelmina S. Kerstjens-Frederikse, Yvonne J. Vos, Bert B.A. de Vries, Tuula Rinne, Marc T R Roofthooft, Paulien A Terhal, Patrick Deelen, Conny M. A. van Ravenswaaij-Arts, Barbara Frentz, Katharina Löhner, Trijnie Dijkhuizen, Erika Leenders

Publikováno v: European Journal of Human Genetics, 29, 1669-1676. Nature Publishing Group
Eur J Hum Genet

Deletions that include the gene TAB2 and TAB2 loss-of-function variants have previously been associated with congenital heart defects and cardiomyopathy. However, other features, including short stature, facial dysmorphisms, connective tissue abnorma

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1fd540b65f880419358b12d518f7ffd4
https://doi.org/10.1038/s41431-021-00948-0

Pulmonary medium vessel vasculitis in an 11 year old boy: Hughes Stovin syndrome as a variant of polyarteritis nodosa?

Autor: Hendrika Bootsma, Gerard H. Koppelman, Wineke Armbrust, Willemien de Vries, Marc T. R. Roofthooft, Martha K. Leijsma

Publikováno v: Pediatric Rheumatology Online Journal
Pediatric Rheumatology Online Journal, Vol 9, Iss 1, p 19 (2011)
Pediatric rheumatology, 9:19. BioMed Central Ltd.

We present the case of an 11-year-old boy presenting with haemoptysis, dyspnoea and weight loss as a manifestation of isolated pulmonary vasculitis, leading to pulmonary hypertension. He also appeared to have a longstanding dural venous sinus thrombo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97b99670bf1baea6a337de387af42bdd
https://pubmed.ncbi.nlm.nih.gov/21816089