Differences in Expression of IQSEC2 Transcript Isoforms in Male and Female Cases with Loss of Function Variants and Neurodevelopmental Disorder

Pathogenic hemizygous or heterozygous mutations in the IQSEC2 gene cause X-linked intellectual developmental disorder-1 (XLID1), characterized by a variable phenotype including developmental delay, intellectual disability, epilepsy, hypotonia, autism, microcephaly and stereotypies. It affects both m...

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Detalles Bibliográficos
Autores principales: Baladron, Beatriz, Mielu, Lidia M., López-Martín, Estrella, Barrero, Maria J., Lopez, Lidia, Alvarado, Jose I., Monzón, Sara, Varona, Sarai, Cuesta, Isabel, Cazorla, Rosario, Lara, Julián, Iglesias, Gemma, Román, Enriqueta, Ros, Purificación, Gomez-Mariano, Gema, Cubillo, Isabel, Miguel, Esther Hernandez-San, Rivera, Daniel, Alonso, Javier, Bermejo-Sánchez, Eva, Posada, Manuel, Martínez-Delgado, Beatriz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9409358/
https://www.ncbi.nlm.nih.gov/pubmed/36012761
http://dx.doi.org/10.3390/ijms23169480

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