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Persistent Hyperinsulinism in Kabuki Syndrome 2: Case Report and Literature Review
Kabuki syndrome is a clinically and genetically heterogeneous congenital malformation syndrome with protean clinical manifestations. This reflects the important epigenetic role in embryonic development of the two genes currently known to be associated with Kabuki syndrome i.e., KMT2D and KDM6A, whic...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
PAGEPress Publications, Pavia, Italy
2016
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5067400/ https://www.ncbi.nlm.nih.gov/pubmed/27777708 http://dx.doi.org/10.4081/cp.2016.848 |