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Peutz-Jeghers syndrome: early clinical expression of a new STK11 gene variant
Genetic heterogeneity has been recognised in Peutz-Jeghers syndrome (PJS) (over 230 STK11 gene mutations reported). We report a rare PJS phenotype with early extensive gastrointestinal (GI) presentation and a new genetic variant. The case presented as haematochezia and mucocutaneous pigmentation (th...
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| Publicado no: | BMJ Case Rep |
|---|---|
| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Publishing Group
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4600779/ https://ncbi.nlm.nih.gov/pubmed/26430231 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2015-211345 |
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