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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Pubblicato in:Horm Res Paediatr
Autori principali: Swartz, Jonathan M, Akinci, Aysehan, Andrew, Shayne F., Siğirci, Ahmet, Hirschhorn, Joel N, Rosenfeld, Ron G, Dauber, Andrew, Hwa, Vivian
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2014
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Article
Accesso online: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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