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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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| Publicado no: | Mol Genet Genomic Med |
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| Main Authors: | , , , , , , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley & Sons, Ltd
2015
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| Assuntos: | |
| Acesso em linha: | 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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