2019年
A novel PTCH1 mutation in basal cell nevus syndrome with rare craniofacial features.
Human genome variation
- 巻
- 6
- 号
- 16
- 開始ページ
- 16
- 終了ページ
- 16
- 記述言語
- 英語
- 掲載種別
- 研究論文(学術雑誌)
- DOI
- 10.1038/s41439-019-0047-9
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-old Japanese girl with a novel heterozygous nonsense mutation in PTCH1 who exhibited rare craniofacial phenotypes, such as oligodontia and a short-tooth root.
- リンク情報
- ID情報
-
- DOI : 10.1038/s41439-019-0047-9
- PubMed ID : 30962945
- PubMed Central 記事ID : PMC6445144