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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Detalles Bibliográficos
Autores principales: Mukhopadhyay, Arijit, Kramer, Jamie M., Merkx, Gerard, Lugtenberg, Dorien, Smeets, Dominique F., Oortveld, Merel A. W., Blokland, Ellen A. W., Agrawal, Jyoti, Schenck, Annette, van Bokhoven, Hans, Huys, Erik, Schoenmakers, Eric F., van Kessel, Ad Geurts, van Nouhuys, C. Erik, Cremers, Frans P. M.
Formato: Texto
Lenguaje:English
Publicado: Springer-Verlag 2010
Materias:
Original Investigation
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

Internet

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

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