Epileptic spasms in PPP1CB-associated Noonan-like syndrome: a case report with clinical and therapeutic implications

BACKGROUND: Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2) is an extremely rare disease caused by a heterozygous mutation in the PPP1CB gene on chromosome 2p23. The syndrome causes not only numerous dysmorphic features but also hypotonia, developmental delay, and even intellectual di...

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Detalles Bibliográficos
Autores principales: Lin, Chien-Heng, Lin, Wei-De, Chou, I-Ching, Lee, Inn-Chi, Fan, Hueng-Chuen, Hong, Syuan-Yu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6148994/
https://www.ncbi.nlm.nih.gov/pubmed/30236064
http://dx.doi.org/10.1186/s12883-018-1157-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6148994/
https://www.ncbi.nlm.nih.gov/pubmed/30236064
http://dx.doi.org/10.1186/s12883-018-1157-6

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