TY  - JOUR
AU  - Vidal, Silvia
AU  - Brandi, Núria
AU  - Pacheco, Paola
AU  - Gerotina, Edgar
AU  - Blasco, Laura
AU  - Trotta, Jean-Rémi
AU  - Derdak, Sophia
AU  - Del Mar O'Callaghan, Maria
AU  - Garcia-Cazorla, Àngels
AU  - Pineda, Mercè
AU  - Armstrong, Judith
AU  - Rett Working Group
PY  - 2017
DO  - 10.1038/s41598-017-11620-3
UR  - https://hdl.handle.net/10668/25468
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
KW  - Cohort Studies
KW  - DNA Copy Number Variations
KW  - Forkhead Transcription Factors
KW  - Genetic Testing
KW  - High-Throughput Nucleotide Sequencing
KW  - Humans
KW  - Methyl-CpG-Binding Protein 2
KW  - Mutation
KW  - Nerve Tissue Proteins
KW  - Polymorphism, Single Nucleotide
KW  - Protein Serine-Threonine Kinases
KW  - Rett Syndrome
KW  - Exome Sequencing
TI  - The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.
TY  - research article
VL  - 7
ER  -