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March 1, 2000Journal of Medical GeneticsOpen Access

Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations

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FPFred PetrijLeiden University

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Fred Petrij (2000) studied this question.

synapsesocial.com/papers/6a8bfc9b29efb9ec64c45f8dhttps://doi.org/10.1136/jmg.37.3.168
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Also Consider

Synapse has enriched 2 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Confirmation of assigment of a locus for rubinstein‐taybi syndrome gene to 16p13.31992 · 137 citations
  2. 2Extensive cross-homology between the long and the short arm of chromosome 16 may explain leukemic inversions and translocations1992 · 71 citations