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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Publicat a:Mol Genet Genomic Med
Autors principals: 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
Idioma:Inglês
Publicat: John Wiley & Sons, Ltd 2015
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Original Articles
Accés en línia: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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