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Chromosome 19p13.3 deletion in a child with Peutz-Jeghers syndrome, congenital heart defect, high myopia, learning difficulties and dysmorphic features: Clinical and molecular characterization of a new contiguous gene syndrome
The Peutz-Jeghers syndrome (PJS) is an autosomal-dominant hamartomatous polyposis syndrome characterized by mucocutaneous pigmentation, gastrointestinal polyps and the increased risk of multiple cancers. The causative point mutation in the STK11 gene of most patients accounts for about 30% of the ca...
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| Main Authors: | , , , , , |
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| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Sociedade Brasileira de Genética
2011
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3229108/ https://ncbi.nlm.nih.gov/pubmed/22215957 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1590/S1415-47572011005000044 |
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