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A Novel ERCC6 Splicing Variant Associated with a Mild Cockayne Syndrome Phenotype
BACKGROUND: Cockayne syndrome is an autosomal recessive, heterogeneous syndrome with classic features, including short stature, microcephaly, developmental delay, neuropathy, and photosensitivity. New genomic approaches offer improved molecular diagnostic potential. METHODS: Whole-exome sequencing w...
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| Publicado no: | Horm Res Paediatr |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2014
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4329776/ https://ncbi.nlm.nih.gov/pubmed/25376329 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000368192 |
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