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Article

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

Journal of genetics - 1 Jan 2020

Rodríguez-García María Elena, Cotrina-Vinagre Francisco Javier, Arranz-Canales Elena, Aragón Ana Martínez de, Hernández-Sánchez Laura, Rodríguez-Fornés Fátima, Carnicero-Rodríguez Patricia, Morales-Conejo Montserrat, Martín-Hernández Elena, Martínez-Azorín Francisco

Abstract excerpt

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 de novo mutation in the purine-rich element binding protein A gene (PURA; NM_005859.4:c.72del:p.(-Gly25AlafsTer53)) that encodes the...

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PMID: 32089526

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A novel de novo mutation in the PURA gene associated with a new clinical finding: large brainstem.PMID 32089526Read ↗

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PURA-Related Neurodevelopmental Disorder: Insight from Eight New Cases.Semantic proximity Read ↗

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Clinical and Genetic Characterization of Two Colombian Patients with PURA-Related Neurodevelopmental Disorder: Expanding the Latin American Phenotypic SpectrumSemantic proximity Read ↗

Expanding The Clinical Phenotype and Genetic Spectrum of PURA-Related Neurodevelopmental DisordersSemantic proximity Read ↗

Expanding the neurodevelopmental phenotype of PURA syndrome.Semantic proximity Read ↗

Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.Semantic proximity Read ↗

PURA-Related Neurodevelopmental Disorders with Epilepsy Treated with Ketogenic Diet: A Case-Based Review.Semantic proximity Read ↗

Expanding the clinical phenotype and genetic spectrum of PURA-related neurodevelopmental disorders.Semantic proximity Read ↗

A clinical analysis and diagnosis course of children with PURA-related neurodevelopmental disorders in Tianjin, ChinaSemantic proximity Read ↗

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