Journal
NATURE GENETICS
Volume 44, Issue 8, Pages 838-839Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.2366
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Funding
- NHLBI NIH HHS [R01 HL078564] Funding Source: Medline
- NIGMS NIH HHS [R01 GM060514] Funding Source: Medline
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Two new studies show that haploinsufficiency for TGFB2 causes a familial syndrome of thoracic aortic aneurysms and dissections with other clinical features that overlap the Marfan, Loeys-Dietz spectrum of syndromes. Their finding of loss-of-function mutations in yet another transforming growth factor (TGF)-beta pathway gene reinforces the seeming paradox of observed increases in the downstream TGF-beta signaling pathway.
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