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JOURNAL OF MEDICAL GENETICS, ISSN 0022-2593, 02/2018, Volume 55, Issue 2, pp. 104 - 113
Journal Article
Journal of Gastroenterology and Hepatology, ISSN 0815-9319, 05/2017, Volume 32, Issue 5, pp. 1071 - 1078
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2016, Volume 98, Issue 2, pp. 373 - 381
Journal Article
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 07/2017, Volume 62, Issue 7, pp. 711 - 715
Marfan syndrome is an autosomal dominant disorder affecting mainly the skeletal, ocular and cardiovascular systems. Most cases are caused by mutations in the... 
ELEMENTS | INSERTION | HUMAN-DISEASE | FIBRILLIN | MARFAN-SYNDROME | GENETICS & HEREDITY | PHENOTYPE | MUTATIONS | SVA | TGFBR2 | FAMILY | Microarray Analysis | Base Sequence | Humans | Child, Preschool | Exons - genetics | Male | Fibrillin-1 - genetics | Sinus of Valsalva - abnormalities | Child | Dilatation, Pathologic | Sequence Deletion - genetics
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 06/2013, Volume 92, Issue 6, pp. 927 - 934
Journal Article
Journal Article