A novel de novo mutation in the PURA gene associated with a new clinical finding: large brainstem.

In conclusion, our data expand both geneticand phenotypic spectrum associated with PURA gene mutations.
PMID: 32089526 [PubMed - in process]

Source: Journal of Genetics - February 26, 2020 Category: Genetics & Stem Cells Authors: Rodríguez-García ME, Cotrina-Vinagre FJ, Arranz-Canales E, Aragón AM, Hernández-Sánchez L, Rodríguez-Fornés F, Carnicero-Rodríguez P, Morales-Conejo M, Martín-Hernández E, Martínez-Azorín F Tags: J Genet Source Type: research