Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia.

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Description scientific article published on 9 January 2017
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author: Emma L. Duncan  Valérie Cormier-Daire  Amaka C. Offiah  Jimena Barraza-García  Karen E Heath 

Publication date February 22, 2017
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