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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: 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.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Springer-Verlag 2010
Gaiak:
Original Investigation
Sarrera elektronikoa: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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