Differences in Expression of IQSEC2 Transcript Isoforms in Male and Female Cases with Loss of Functi...
Differences in Expression of IQSEC2 Transcript Isoforms in Male and Female Cases with Loss of Function Variants and Neurodevelopmental Disorder
About this item
Full title
Author / Creator
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 and Martínez-Delgado, Beatriz
Publisher
Switzerland: MDPI AG
Journal title
Language
English
Formats
Publication information
Publisher
Switzerland: MDPI AG
Subjects
More information
Scope and Contents
Contents
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 males and females typically through loss of functio...
Alternative Titles
Full title
Differences in Expression of IQSEC2 Transcript Isoforms in Male and Female Cases with Loss of Function Variants and Neurodevelopmental Disorder
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9409358
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9409358
Other Identifiers
ISSN
1422-0067,1661-6596
E-ISSN
1422-0067
DOI
10.3390/ijms23169480
