TY  - GEN
AU  - Baladron-Jimenez, Beatriz Isabel
AU  - Mirela Mielu, Lidia
AU  - Lopez-Martin, Estrella
AU  - Barrero, Maria
AU  - López-Jiménez, Lidia
AU  - Alvarado, Jose I
AU  - Monzon-Fernandez, Sara
AU  - Varona Fernandez, Sarai
AU  - Cuesta de la Plaza, Isabel
AU  - Cazorla, Rosario
AU  - Lara, Julián
AU  - Iglesias, Gemma
AU  - Román, Enriqueta
AU  - Ros, Purificación
AU  - Gomez-Mariano, Gema Maria
AU  - Cubillo, Isabel
AU  - Hernandez-SanMiguel, Esther
AU  - Rivera Pinto, Daniel
AU  - Alonso, Javier
AU  - Bermejo-Sanchez, Eva
AU  - Posada De la Paz, Manuel
AU  - Martinez-Delgado, Beatriz
PY  - 2022
DO  - 10.3390/ijms23169480
UR  - http://hdl.handle.net/20.500.12105/15045
AB  - 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,...
LA  - eng
PB  - Multidisciplinary Digital Publishing Institute (MDPI)
KW  - IQSEC2 gene
KW  - Neurodevelopment syndrome
KW  - Exome
KW  - Transcript isoforms
KW  - Intron variant
KW  - Gene expression
KW  - Spain UDP
KW  - Guanine Nucleotide Exchange Factors
KW  - Intellectual Disability
KW  - Neurodevelopmental Disorders
KW  - Female
KW  - Humans
KW  - Male
KW  - Mutation
KW  - Pedigree
KW  - Phenotype
KW  - Protein Isoforms
KW  - Whole Exome Sequencing
TI  - Differences in Expression of IQSEC2 Transcript Isoforms in Male and Female Cases with Loss of Function Variants and Neurodevelopmental Disorder
TY  - research article
ER  -