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

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

doi:https://doi.org/10.1038/s41439-019-0047-9

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

Murata, Yuka; Kurosaka, Hiroshi; Ohata, Yasuhisa et al.

Human Genome Variation, 2019, 6(16)

アクセス数:153件（2026-02-15 21:48 集計）

固定URL: https://hdl.handle.net/11094/103555

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タイトル	A novel PTCH1 mutation in basal cell nevus syndrome with rare craniofacial features
著者	NRID 1000090755068 1000090755068 ORCID 0000-0002-7072-849X 0000-0002-7072-849X researchmap permalink yukamurata yukamurata Scopus Author ID 55813110200 55813110200 著者名 Murata, Yuka
	NRID 1000020509369 1000020509369 ORCID 0000-0002-8956-5467 0000-0002-8956-5467 researchmap permalink kurosakahiroshi kurosakahiroshi Scopus Author ID 11839162500 11839162500 著者名 Kurosaka, Hiroshi
	NRID 1000020805460 1000020805460 ORCID 0000-0001-6084-6620 0000-0001-6084-6620 researchmap permalink pedmed pedmed Scopus Author ID 25626528000 25626528000 著者名 Ohata, Yasuhisa
	NRID 1000000362674 1000000362674 ORCID 0000-0001-6906-6874 0000-0001-6906-6874 researchmap permalink AT003072 AT003072 Scopus Author ID 7102369836 7102369836 著者名 Aikawa, Tomonao
	NRID 1000090964875 1000090964875 著者名 Takahata, Sosuke
	NRID 1000070344992 1000070344992 著者名 Fujii, Katsunori
	NRID 1000060174182 1000060174182 著者名 Miyashita, Toshiyuki
	NRID 1000050754727 1000050754727 researchmap permalink c_morita c_morita Scopus Author ID 56310853500 56310853500 著者名 Morita, Chisato
	NRID 1000030550941 1000030550941 ORCID 0000-0001-5303-4763 0000-0001-5303-4763 researchmap permalink opathone0141 opathone0141 Scopus Author ID 23097933700 23097933700 著者名 Inubushi, Toshihiro
	NRID 1000040629135 1000040629135 ORCID 0000-0003-4483-4405 0000-0003-4483-4405 researchmap permalink k_b_t k_b_t Scopus Author ID 8236245700 8236245700 著者名 Kubota, Takuo
	NRID 1000030314313 1000030314313 researchmap permalink norio_sakai1121 norio_sakai1121 著者名 Sakai, Norio
	NRID 1000020270770 1000020270770 ORCID 0000-0002-6517-8825 0000-0002-6517-8825 researchmap permalink read0092357 read0092357 Scopus Author ID 55545335700 55545335700 著者名 Ozono, Keiichi
	NRID 1000020205371 1000020205371 著者名 Kogo, Mikihiko
	NRID 1000070294428 1000070294428 ORCID 0000-0002-4419-9643 0000-0002-4419-9643 researchmap permalink read0051793 read0051793 Scopus Author ID 55416765600 55416765600 著者名 Yamashiro, Takashi
内容	Murata Y., Kurosaka H., Ohata Y., et al. A novel PTCH1 mutation in basal cell nevus syndrome with rare craniofacial features. Human Genome Variation 6, 16 (2019); https://doi.org/10.1038/s41439-019-0047-9.
抄録	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.
出版者	Nature Publishing Group
収録物名	Human Genome Variation
巻(号)	6(16)
刊行年月	2019-04-02
言語	英語
ハンドルURL	https://hdl.handle.net/11094/103555
eISSN	2054345X
関連情報 (isIdenticalTo)	DOI (出版社版) https://doi.org/10.1038/s41439-019-0047-9
アクセス権	open access
権利情報	This article is licensed under a Creative Commons Attribution 4.0 International License.
出版タイプ	Version of Record
カテゴリ	学術雑誌論文 Journal Article

資源タイプ	学術雑誌論文
ローカル資源タイプ	学術雑誌論文
DCMI資源タイプ	text
DCTERMS.bibliographicCitation	Human Genome Variation. 2019, 6(16)
DC.title	A novel PTCH1 mutation in basal cell nevus syndrome with rare craniofacial features
DC.creator	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
DC.publisher	Nature Publishing Group
DC.language' scheme='DCTERMS.RFC1766	英語
DC.type' scheme='DCTERMS.DCMIType	text
DCTERMS.issued' scheme='DCTERMS.W3CDTF	2019-04-02
DC.identifier	https://doi.org/10.1038/s41439-019-0047-9
DC.description	Murata Y., Kurosaka H., Ohata Y., et al. A novel PTCH1 mutation in basal cell nevus syndrome with rare craniofacial features. Human Genome Variation 6, 16 (2019); https://doi.org/10.1038/s41439-019-0047-9.
DCTERMS.abstract	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.
DC.rights	This article is licensed under a Creative Commons Attribution 4.0 International License.
DC.format	103555
citation_title	A novel PTCH1 mutation in basal cell nevus syndrome with rare craniofacial features
citation_author	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
citation_publisher	Nature Publishing Group
citation_language	英語
citation_date	2019-04-02
citation_journal_title	Human Genome Variation
citation_volume	6
citation_issue	16
citation_doi	https://doi.org/10.1038/s41439-019-0047-9
citation_public_url	https://hdl.handle.net/11094/103555

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

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