LTBP2 mutations cause Weill–Marchesani and Weill–Marchesani‐like syndrome and affect disruptions in the extracellular matrix

Haji-Seyed-Javadi, Ramona; Jelodari-Mamaghani, Sahar; Hassan Paylakhi, Seyed; Yazdani, S.; Nilforushan, Naveed; Fan, Jian-Bing; Klotzle, Brandy; Mahmoudi, M.; Ebrahimian, Mohammad; Chelich, Noori; Taghiabadi, E.; Kamyab, K.; Boileau, C.; Paisán-Ruiz, C.; Ronaghi, M.; Elahi, E.

doi:10.1002/humu.22105

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LTBP2 mutations cause Weill–Marchesani and Weill–Marchesani‐like syndrome and affect disruptions in the extracellular matrix

Shared by NobleBlocks on Aug 1, 2012 • 12:00 AM UTC

Authors:

Ramona Haji-Seyed-Javadi

Sahar Jelodari-Mamaghani

Seyed Hassan Paylakhi

Abstract

Latent transforming growth factor (TGF) beta‐binding protein 2 (LTBP2) is an extracellular matrix (ECM) protein that associates with fibrillin‐1 containing microfibrils. Various factors prompted considering LTBP2 in the etiology of isolated ectopia lentis and associated conditions such as Weill–Marc...

Subject

Biology

Medicine

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