Aortic dilatation associated with a de novo mutation in the SOX18 gene: expanding the clinical spectrum of hypotrichosis-lymphedema-telangiectasia syndrome
F Wünnemann, V Kokta, S Leclerc, M Thibeault… - Canadian Journal of …, 2016 - Elsevier
Background We report a 13-year-old female patient followed since birth for multiple rare
congenital defects, including hypotrichosis, telangiectasia, and severe dilatation of the
ascending aorta. Methods Comprehensive phenotype assessment throughout childhood
included repeated echocardiographic measurements, evaluation of renal function, and
immunohistochemical analysis of skin biopsy samples. Whole-exome sequencing was
performed for the patient and both unaffected parents. Results We identified a novel de novo …
congenital defects, including hypotrichosis, telangiectasia, and severe dilatation of the
ascending aorta. Methods Comprehensive phenotype assessment throughout childhood
included repeated echocardiographic measurements, evaluation of renal function, and
immunohistochemical analysis of skin biopsy samples. Whole-exome sequencing was
performed for the patient and both unaffected parents. Results We identified a novel de novo …