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

@article{HajiSeyedJavadi2012LTBP2MC,
  title={LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix.},
  author={Ramona Haji-Seyed-Javadi and Sahar Jelodari-Mamaghani and Seyed Hassan Paylakhi and Shahin Yazdani and Naveed Nilforushan and Jian-Bing Fan and Brandy Klotzle and Mohammad Jafar Mahmoudi and Mohammad Ebrahimian and Noori Chelich and Ehsan Taghiabadi and Kambiz Kamyab and Catherine Boileau and Coro Pais{\'a}n-Ruiz and Mostafa Ronaghi and Elahe Elahi},
  journal={Human mutation},
  year={2012},
  volume={33 8},
  pages={
          1182-7
        }
}
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-Marchesani syndrome (WMS) and Marfan syndrome (MFS). LTBP2 was screened in 30 unrelated Iranian patients. Mutations were found only in one WMS proband and one MFS proband. Homozygous c.3529G>A (p… CONTINUE READING

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