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Nevoid basal carcinoma syndrome (Gorlin syndrome) and pronounced androgenic alopecia in a woman with a novel mutation p.Leu1159fsx32 in the PTCH gene

✍ Scribed by Sofia KITSIOU-TZELI; Patrick WILLEMS; Maria KOSMADAKI; Eleni LEZE; Christine VRETTOU; Emmanuel KANAVAKIS; Alexandra KATSAROU


Book ID
108578150
Publisher
John Wiley and Sons
Year
2011
Tongue
French
Weight
290 KB
Volume
38
Category
Article
ISSN
0385-2407

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Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is an autosomal dominant disorder characterised by multiple basal cell carcinomas, palmar and plantar pitting, odontogenic keratocysts of the jaws and bilamellar calcification of the falx. Mutations in the PTCH gene are responsible for NBCCS but most stud