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Autor:
Atakan Aydin, Sigrid Tinschert, Sigmar Stricker, Sylvia Bähring, Lisanne Schulze, Konrad Platzer, Friedrich C. Luft, Philipp G. Maass, Andreas Rump, Herbert Schulz, Mary B. Goldring
Publikováno v:
Journal of Clinical Investigation. 122:3990-4002
Translocations are chromosomal rearrangements that are frequently associated with a variety of disease states and developmental disorders. We identified 2 families with brachydactyly type E (BDE) resulting from different translocations affecting chro