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An expansion of the phenotype in individuals with SYNCRIP-Related Neurodevelopmental Disorder

Disruption of genes within the HNRNP gene family has been observed in neurodevelopmental and neurodegenerative diseases. The HNRNP-Related Neurodevelopmental Disorders (HNRNP-RNDDs), while each unique, have been recently described with similar clinical and molecular features across variation in seve...

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Principais autores: Tooba Shafiq, Joanna L. Feng, Lindsay Phillips, Kara Murias, Marcia Ferguson, Kristin Baranano, Alaina Acchione, Patricia Kipkemoi, Collins Kipkoech, Eunice Chepkemoi, Amina Abubakar, Charles Newton, Celia van der Merwe, Emily O’Heir, Alice Galvin, Aixa Gonzalez Garcia, Alisha D’Souza, Jennifer Stefanich, Amelle Shillington, Annabelle Tuttle, Erin Torti, Elen Zhu, Margaretha AJ Morsink, Ekaterina Lebayle, Barbara Corneo, Christopher L. Ricupero, Ping Yee Billie Au, Antonie D. Kline, Meena Balasubramanian, Jennifer Bain, Madelyn A. Gillentine
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2024-01-01
coleção:Rare
Assuntos:
SYNCRIP
neurodevelopmental disorders
genetic disorders
HNRNPQ
HNRNP-related neurodevelopmental disorders
SYNCRIP-related neurodevelopmental disorder
Acesso em linha:http://www.sciencedirect.com/science/article/pii/S2950008724000358
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