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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Bibliografiske detaljer
Udgivet i: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
Sprog:Inglês
Udgivet: John Wiley & Sons, Ltd 2015
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Original Articles
Online adgang: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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