Rett Syndrome and CDKL5 Deficiency Disorder: From Bench to Clinic

Rett syndrome (RTT) and CDKL5 deficiency disorder (CDD) are two rare X-linked developmental brain disorders with overlapping but distinct phenotypic features. This review examines the impact of loss of methyl-CpG-binding protein 2 (MeCP2) and cyclin-dependent kinase-like 5 (CDKL5) on clinical phenot...

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Detalles Bibliográficos
Autores principales: Kadam, Shilpa D., Sullivan, Brennan J., Goyal, Archita, Blue, Mary E., Smith-Hicks, Constance
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6834180/
https://www.ncbi.nlm.nih.gov/pubmed/31618813
http://dx.doi.org/10.3390/ijms20205098

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6834180/
https://www.ncbi.nlm.nih.gov/pubmed/31618813
http://dx.doi.org/10.3390/ijms20205098

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