Mutations in CDK5RAP2 cause Seckel syndrome

Seckel syndrome is a heterogeneous, autosomal recessive disorder marked by prenatal proportionate short stature, severe microcephaly, intellectual disability, and characteristic facial features. Here, we describe the novel homozygous splice-site mutations c.383+1G>C and c.4005-9A>G in CDK5RAP2...

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Bibliographic Details
Published in:Mol Genet Genomic Med
Main Authors: Yigit, Gökhan, Brown, Karen E, Kayserili, Hülya, Pohl, Esther, Caliebe, Almuth, Zahnleiter, Diana, Rosser, Elisabeth, Bögershausen, Nina, Uyguner, Zehra Oya, Altunoglu, Umut, Nürnberg, Gudrun, Nürnberg, Peter, Rauch, Anita, Li, Yun, Thiel, Christian Thomas, Wollnik, Bernd
Format: Artigo
Language:Inglês
Published: John Wiley & Sons, Ltd 2015
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Original Articles
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4585455/
https://ncbi.nlm.nih.gov/pubmed/26436113
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.158
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