TY  - GEN
AU  - Martinez-Delgado, Beatriz
AU  - Lopez-Martin, Estrella
AU  - Lara-Herguedas, Julián
AU  - Monzon, Sara
AU  - Cuesta, Isabel
AU  - Juliá, Miguel
AU  - Aquino, Virginia
AU  - Rodriguez-Martin, Carlos
AU  - Damian, Alejandra
AU  - Gonzalo, Irene
AU  - Gomez-Mariano, Gema Maria
AU  - Baladron-Jimenez, Beatriz Isabel
AU  - Cazorla, Rosario
AU  - Iglesias, Gema
AU  - Roman, Enriqueta
AU  - Ros, Purificación
AU  - Tutor, Pablo
AU  - Mellor, Susana
AU  - Jimenez, Carlos
AU  - Cabrejas, Maria Jose
AU  - Gonzalez-Vioque, Emiliano
AU  - Alonso, Javier
AU  - Bermejo-Sanchez, Eva
AU  - Posada De la Paz, Manuel
PY  - 2021
DO  - 10.1002/ajmg.a.62017
UR  - http://hdl.handle.net/20.500.12105/17268
AB  - Disruption of the autism susceptibility candidate 2 (AUTS2) gene through genomic rearrangements, copy number variations (CNVs), and intragenic deletions and mutations, has been recurrently involved in syndromic forms of developmental delay and...
LA  - eng
PB  - Wiley
KW  - AUTS2 gene
KW  - AUTS2 syndrome
KW  - Expression
KW  - Short isoform
KW  - Sequence Deletion
KW  - Transcription Initiation Site
KW  - Child, Preschool
KW  - Cytoskeletal Proteins
KW  - Dwarfism
KW  - Exons
KW  - Gene Expression Regulation
KW  - Genetic Association Studies
KW  - Humans
KW  - Male
KW  - Neurodevelopmental Disorders
KW  - Protein Isoforms
KW  - RNA, Messenger
KW  - Syndrome
KW  - Transcription Factors
KW  - Transcription, Genetic
TI  - De novo small deletion affecting transcription start site of short isoform of AUTS2 gene in a patient with syndromic neurodevelopmental defects
TY  - research article
ER  -