LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix.

R, Haji-Seyed-Javadi; S, Jelodari-Mamaghani; SH, Paylakhi; S, Yazdani; N, Nilforushan; JB, Fan; B, Klotzle; MJ, Mahmoudi; MJ, Ebrahimian; N, Chelich; E, Taghiabadi; K, Kamyab; C, Boileau; C, Paisan-Ruiz; M, Ronaghi; E, Elahi

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 May 29, 2012 • 12:00 AM UTC

Authors:

Haji-Seyed-Javadi R

Jelodari-Mamaghani S

Paylakhi SH

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...

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