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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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| Publicat a: | Mol Med Rep |
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| Autors principals: | , , , , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
D.A. Spandidos
2019
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6854595/ https://ncbi.nlm.nih.gov/pubmed/31638258 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/mmr.2019.10757 |
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