- Article
Differences in Expression of IQSEC2 Transcript Isoforms in Male and Female Cases with Loss of Function Variants and Neurodevelopmental Disorder
- Beatriz Baladron,
- Lidia M. Mielu,
- Estrella López-Martín,
- Maria J. Barrero,
- Lidia Lopez,
- Jose I. Alvarado,
- Sara Monzón,
- Sarai Varona,
- Isabel Cuesta and
- Rosario Cazorla
- + 12 authors
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...

