A carregar...
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...
Na minha lista:
| Main Authors: | , , , , , , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2014
|
| Assuntos: | |
| Acesso em linha: | 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 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|