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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...
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Main Authors: | , , , , , , , , , , , , , , |
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Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
Springer-Verlag
2010
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2921488/ https://ncbi.nlm.nih.gov/pubmed/20563892 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-010-0848-x |
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