Early-onset epilepsy and microcephaly-capillary malformation syndrome caused by a novel STAMBP mutation in a Chinese boy

To the best of our knowledge, the present study reported the case of the first Chinese patient with microcephaly-capillary malformation (MIC-CAP) syndrome caused by a novel compound heterozygous mutation in the STAMBP gene, which encodes STAM binding protein. The present study also provides a review...

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Detalles Bibliográficos
Autores principales: Wu, Fangrui, Dai, Ying, Wang, Juan, Cheng, Min, Wang, Yanqin, Li, Xiujuan, Yuan, Ping, Liao, Shuang, Jiang, Li, Chen, Jin, Yan, Lisi, Zhong, Min
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2019
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6854595/
https://www.ncbi.nlm.nih.gov/pubmed/31638258
http://dx.doi.org/10.3892/mmr.2019.10757

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