Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Tibbe Dhooge"'
Autor:
Delfien Syx, Geert Mortier, Sofie Symoens, Peter H. Byers, Trinh Hermanns-Lê, Ingrid Hausser, Tibbe Dhooge, Jonathan Zonana, Fransiska Malfait
Publikováno v:
Genetics in medicine
Purpose Infantile Caffey disease is a rare disorder characterized by acute inflammation with subperiosteal new bone formation, associated with fever, pain, and swelling of the overlying soft tissue. Symptoms arise within the first weeks after birth a
Publikováno v:
Human Mutation. 42:1294-1306
Classical Ehlers-Danlos syndrome (cEDS) is a heritable connective tissue disorder mainly caused by pathogenic variants in COL5A1 or COL5A2, encoding type V collagen. Its diagnosis, based on clinical criteria and molecular confirmation, can be challen
Autor:
Anil Radhakrishnan, Isabelle Migeotte, Fransiska Malfait, Osama Essawi, Serdar Ceylaner, Pelin Ozlem Simsek-Kiper, Sofie Symoens, Tim Van Damme, Laura Muiño Mosquera, Tibbe Dhooge, Brad T. Tinkle, Adila Al Kindy, Maryse Bonduelle, Delfien Syx, Gülen Eda Utine, Sheela Nampoothiri
Publikováno v:
Human mutation
Brittle cornea syndrome (BCS) is a rare autosomal recessive disorder characterized by corneal thinning and fragility, leading to corneal rupture, the main hallmark of this disorder. Non-ocular symptoms include not only hearing loss but also signs of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e4a6b392e13cbe1fb0cddf830eefa09
https://doi.org/10.22541/au.160521847.70334534/v1
https://doi.org/10.22541/au.160521847.70334534/v1
Autor:
Sofie Symoens, Riet De Rycke, Nathalie Goemans, Delfien Syx, Tibbe Dhooge, Anne Destree, Fransiska Malfait, Florence Petit, Sarah Delbaere, Olivier Vanakker
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 22(1)
To date, heterozygous or homozygous COL12A1 variants have been reported in 13 patients presenting with a clinical phenotype overlapping with collagen VI–related myopathies and Ehlers–Danlos syndrome (EDS). The small number of reported patients li