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Prenatal manifestation in a family affected by nevoid basal cell carcinoma syndrome

✍ Scribed by Yann Le Brun Keris; Pierre-Simon Jouk; Géraldine Saada-Sebag; Jean-Jacques Roux; Bertrand Mattei; Laure Bagait; Ariane Paoloni-Giacobino; Bernard Grandchamp; Nadem Soufir; James Lespinasse


Book ID
116433100
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
421 KB
Volume
51
Category
Article
ISSN
1769-7212

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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