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CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation
Microcephaly, mental retardation and congenital retinal folds along with other systemic features have previously been reported as a separate clinical entity. The sporadic nature of the syndrome and lack of clear inheritance patterns pointed to a genetic heterogeneity. Here, we report a genetic analy...
| Autores principales: | , , , , , , , , , , , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Springer-Verlag
2010
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2921488/ https://www.ncbi.nlm.nih.gov/pubmed/20563892 http://dx.doi.org/10.1007/s00439-010-0848-x |