Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome

Authors

Keywords

TGFB3, Tall stature, Bifid uvula, Marfan syndrome, Loeys-Dietz syndrome, Exome sequencing

Journal

Volume 29, Issue 5, Pages 330-334

Publisher

Elsevier BV

Online

2015-07-14

DOI

10.1016/j.mcp.2015.07.003

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