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A pediatric case of congenital stromal corneal dystrophy caused by the novel variant c.953del of the DCN gene.
Morikawa, Hazuki; Nishina, Sachiko; Torii, Kaoruko; Hosono, Katsuhiro; Yokoi, Tadashi; Shigeyasu, Chika; Yamada, Masakazu; Kosuga, Motomichi; Fukami, Maki; Saitsu, Hirotomo; Azuma, Noriyuki; Hori, Yuichi; Hotta, Yoshihiro.
Affiliation
  • Morikawa H; Division of Ophthalmology, National Center for Child Health and Development, Tokyo, Japan.
  • Nishina S; Department of Ophthalmology, Toho University Graduate School of Medicine, Tokyo, Japan.
  • Torii K; Division of Ophthalmology, National Center for Child Health and Development, Tokyo, Japan. nishina-s@ncchd.go.jp.
  • Hosono K; Department of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Yokoi T; Department of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Shigeyasu C; Division of Ophthalmology, National Center for Child Health and Development, Tokyo, Japan.
  • Yamada M; Division of Ophthalmology, National Center for Child Health and Development, Tokyo, Japan.
  • Kosuga M; Department of Ophthalmology, Kyorin University, Tokyo, Japan.
  • Fukami M; Division of Ophthalmology, National Center for Child Health and Development, Tokyo, Japan.
  • Saitsu H; Department of Ophthalmology, Kyorin University, Tokyo, Japan.
  • Azuma N; Division of Medical Genetics, National Center for Child Health and Development, Tokyo, Japan.
  • Hori Y; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Hotta Y; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Hum Genome Var ; 10(1): 9, 2023 Mar 24.
Article in En | MEDLINE | ID: mdl-36964172
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Hum Genome Var Year: 2023 Document type: Article Affiliation country:
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Hum Genome Var Year: 2023 Document type: Article Affiliation country: