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Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities
Kabuki syndrome is a monogenic disorder caused by loss of function variants in either of two genes encoding histone-modifying enzymes. We performed targeted sequencing in a cohort of 27 probands with a clinical diagnosis of Kabuki syndrome. Of these, 12 had causative variants in the two known Kabuki...
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| Pubblicato in: | Eur J Hum Genet |
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| Autori principali: | , , , , , , , , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Springer International Publishing
2017
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5865196/ https://ncbi.nlm.nih.gov/pubmed/29255178 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-017-0023-0 |
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