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Marinesco-sjogren syndrome in an Emirati child with a novel mutation in SIL1 affecting the 5' untranslated region
Medical Principles and Practice. 2016; 25 (6): 580-582
em Inglês | IMEMR | ID: emr-184902
ABSTRACT

Objective:

The aim of this study was to report clinical and molecular findings in an Emirati child with Marinesco-Sjogren syndrome born to consanguineous parents
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Índice: IMEMR (Mediterrâneo Oriental) Idioma: Inglês Revista: Med. Princ. Pract. Ano de publicação: 2016

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Índice: IMEMR (Mediterrâneo Oriental) Idioma: Inglês Revista: Med. Princ. Pract. Ano de publicação: 2016