A novel PTCH1 mutation in basal cell nevus syndrome with rare craniofacial features

Basal cell nevus syndrome (BCNS) is a rare, multisystem, autosomal dominant disorder that is characterized by various phenotypes, including multiple basal cell carcinomas of the skin, odontogenic keratocysts of the jaws, and occasionally cleft lip and/or palate. In this report, we describe a 6-year-...

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Bibliographic Details
Published in:Hum Genome Var
Main Authors: Murata, Yuka, Kurosaka, Hiroshi, Ohata, Yasuhisa, Aikawa, Tomonao, Takahata, Sosuke, Fujii, Katsunori, Miyashita, Toshiyuki, Morita, Chisato, Inubushi, Toshihiro, Kubota, Takuo, Sakai, Norio, Ozono, Keiichi, Kogo, Mikihiko, Yamashiro, Takashi
Format: Artigo
Language:Inglês
Published: Nature Publishing Group UK 2019
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6445144/
https://ncbi.nlm.nih.gov/pubmed/30962945
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-019-0047-9
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