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S
Schmidts, M;
Arts, HH;
Bongers, EM;
Yap, Z;
Oud, MM;
Antony, D;
Duijkers, L;
... Mitchison, HM; + view all
(2013)
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.
J Med Genet
, 50
(5)
309 - 323.
10.1136/jmedgenet-2012-101284.
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