A new mutation in the hMSH2 gene in a Spanish Lynch syndrome family
✍ Scribed by Ruth Zárate; Ana Patiño-García; Jesús Sola; Jesús García-Foncillas
- Book ID
- 107597733
- Publisher
- Springer Milan
- Year
- 2010
- Tongue
- Spanish
- Weight
- 397 KB
- Volume
- 12
- Category
- Article
- ISSN
- 1699-048X
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Communicated by Sauiu L.C. Woo We examined 18 unrelated individuals who have colorectal cancer or cancers associated with the HNPCC syndrome and have a family history of cancer for mutations in exon 13 of the hMSH2 gene. Two of the 18 individuals had the same previously unreported single-base delet
## Abstract Noonan syndrome (NS) is an autosomal dominant disorder comprising short stature, facial dysmorphism, short and/or webbed neck, heart defects, and cryptorchidism in males. The gene responsible for the disorder (__PTPN11__) was recently identified, and explains 30–50% of the cases clinica