TY  - JOUR
AU  - Vidal, Silvia
AU  - Brandi, Nuria
AU  - Pacheco, Paola
AU  - Gerotina, Edgar
AU  - Blasco, Laura
AU  - Trotta, Jean-Remi
AU  - Derdak, Sophia
AU  - del Mar O'Callaghan, Maria
AU  - Garcia-Cazorla, Angels
AU  - Pineda, Merce
AU  - Armstrong, Judith
AU  - Rett Working Grp
PY  - 2017
DO  - 10.1038/s41598-017-11620-3
SN  - 2045-2322
UR  - https://hdl.handle.net/10668/25479
T2  - Scientific reports
AB  - Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that almost exclusively affects girls and is totally disabling. Three genes have been identified that cause RTT: MECP2, CDKL5 and FOXG1. However, the etiology of some of RTT patients...
LA  - en
PB  - Nature portfolio
KW  - De-novo mutations
KW  - Intellectual disability
KW  - Database
KW  - Genome
KW  - Dysfunction
KW  - Discovery
KW  - Framework
KW  - Epilepsy
KW  - Criteria
KW  - Autism
TI  - The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome
TY  - research article
VL  - 7
ER  -