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Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund–Thomson Syndrome sibs with mild phenotype
Rothmund–Thomson syndrome is a rare genodermatosis caused by biallelic mutations of the RECQL4 gene and is characterised by poikiloderma, sparse hair, eyelashes and/or eyebrows, small stature, skeletal and dental abnormalities and cancer predisposition. Mutations predicted to result in the loss of R...
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| Main Authors: | , , , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Nature Publishing Group
2014
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4200430/ https://ncbi.nlm.nih.gov/pubmed/24518840 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.18 |
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