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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Bibliografski detalji
Glavni autori: 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.
Format: Artigo
Jezik:Inglês
Izdano: Springer-Verlag 2010
Teme:
Original Investigation
Online pristup: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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