@article{discovery1369493, number = {5}, title = {Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.}, year = {2013}, volume = {50}, note = {This is an open-access article distributed under the terms of the Creative Commons Attribution Non-commercial License, which permits use, distribution, and reproduction in any medium, provided the original work is properly cited, the use is non commercial and is otherwise in compliance with the license.}, pages = {309 -- 323}, journal = {J Med Genet}, month = {May}, author = {Schmidts, M and Arts, HH and Bongers, EM and Yap, Z and Oud, MM and Antony, D and Duijkers, L and Emes, RD and Stalker, J and Yntema, JB and Plagnol, V and Hoischen, A and Gilissen, C and Forsythe, E and Lausch, E and Veltman, JA and Roeleveld, N and Superti-Furga, A and Kutkowska-Kazmierczak, A and Kamsteeg, EJ and El{\cc}ioglu, N and van Maarle, MC and Graul-Neumann, LM and Devriendt, K and Smithson, SF and Wellesley, D and Verbeek, NE and Hennekam, RC and Kayserili, H and Scambler, PJ and Beales, PL and UK10K{,}, {} and Knoers, NV and Roepman, R and Mitchison, HM}, url = {http://dx.doi.org/10.1136/jmedgenet-2012-101284}, abstract = {Jeune asphyxiating thoracic dystrophy (JATD) is a rare, often lethal, recessively inherited chondrodysplasia characterised by shortened ribs and long bones, sometimes accompanied by polydactyly, and renal, liver and retinal disease. Mutations in intraflagellar transport (IFT) genes cause JATD, including the IFT dynein-2 motor subunit gene DYNC2H1. Genetic heterogeneity and the large DYNC2H1 gene size have hindered JATD genetic diagnosis.}, issn = {0022-2593} }