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pro vyhledávání: '"Ana Vidal Esteban"'
Autor:
Ana Gómez-Carpintero García, Ruth Camila Púa Torrejón, Amanda Bermejo Gómez, Ana Vidal Esteban
Publikováno v:
BMJ Case Rep
The advance in the human genetic field has permitted to identify small chromosome alterations and associate them to a specific phenotype. However, there are many mutations that have not yet been described in the literature. We describe the clinica