ELENA ARRANZ-CANALES
Articles written in Journal of Genetics
Volume 99 All articles Published: 10 January 2020 Article ID 0007 RESEARCH ARTICLE
A novel
MARÍA ELENA RODRÍGUEZ-GARCÍA FRANCISCO JAVIER COTRINA-VINAGRE ELENA ARRANZ-CANALES ANA MARTÍNEZ DE ARAGÓN LAURA HERNÁNDEZ-SÁNCHEZ FÁTIMA RODRÍGUEZ-FORNÉS PATRICIA CARNICERO-RODRÍGUEZ MONTSERRAT MORALES-CONEJO ELENA MARTÍN-HERNÁNDEZ FRANCISCO MARTÍNEZ-AZORÍN
We report the case of a Caucasian Spanish boy, who showed profound neonatal hypotonia, feeding difficulties, apnea, severe developmental delay, epilepsy, bilateral convergent strabismus, poor verbal language development and a large brainstem. Whole-exome sequence uncovered a novel
Volume 99, 2020
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