PURA syndrome: clinical delineation and genotype-phenotype...

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Journal of Medical Genetics 2017 / 11

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

Reijnders, Margot R F, Janowski, Robert, Alvi, Mohsan, Self, Jay E, van Essen, Ton J, Vreeburg, Maaike, Rouhl, Rob P W, Stevens, Servi J C, Stegmann, Alexander P A, Schieving, Jolanda, Pfundt, Rolph,
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Language:
english
Journal:
Journal of Medical Genetics
DOI:
10.1136/jmedgenet-2017-104946
Date:
November, 2017
File:
PDF, 1.49 MB
english, 2017
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