CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation
Abstract
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 analysis of a female patient with microcephaly, congenital bilateral falciform retinal folds, nystagmus, and mental retardation. Karyotyping revealed a de...
Paper Details
Title
CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation
Published Date
Jun 22, 2010
Journal
Volume
128
Issue
3
Pages
281 - 291
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