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Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory

✍ Scribed by Klein, Roger D; Dykas, Daniel J; Bale, Allen E

Book ID
121191597
Publisher
Nature Publishing Group
Year
2005
Tongue
English
Weight
311 KB
Volume
7
Category
Article
ISSN
1098-3600

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Nevoid basal cell carcinoma syndrome (NBCC; Gorlin syndrome), an autosomal dominant disorder linked to 9q22.3-q31, and caused by mutations in PTC, the human homologue of the Drosophila patched gene, comprises multiple basal cell carcinomas, keratocysts of the jaw, palmar/plantar pits, spine and rib

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The demonstration that mutations in the Patched (PTCH) gene cause nevoid basal cell carcinoma syndrome (NBCCS) has led to the identification of the exact molecular lesion in a percentage of individuals with the syndrome. In addition, it has been possible to determine, through molecular analysis of p