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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Detaylı Bibliyografya
Yayımlandı:BMC Neurol
Asıl Yazarlar: Lin, Chien-Heng, Lin, Wei-De, Chou, I-Ching, Lee, Inn-Chi, Fan, Hueng-Chuen, Hong, Syuan-Yu
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2018
Konular:
Case Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC6148994/
https://ncbi.nlm.nih.gov/pubmed/30236064
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12883-018-1157-6
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