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Clinical features of syndromic microphthalmia in two novel RARB variants.

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Title: Clinical features of syndromic microphthalmia in two novel RARB variants.
Authors: Koyanagi Y; Division of Ophthalmology, National Center for Child Health and Development, Tokyo, Japan.; Department of Ophthalmology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan., Morikawa-Anzai H; Division of Ophthalmology, National Center for Child Health and Development, Tokyo, Japan., Yoshida T; Division of Ophthalmology, National Center for Child Health and Development, Tokyo, Japan., Tominaga M; Showa Medical University Northern Yokohama Hospital, Center for Clinical Genetics and Genomic Medicine, Kanagawa, Japan.; Showa Medical University Northern Yokohama Hospital, Children's Center, Kanagawa, Japan., Abe Y; Division of Neurology, National Center for Child Health and Development, Tokyo, Japan.; Center for Medical Genetics, National Center for Child Health and Development, Tokyo, Japan., Kosaki R; Center for Medical Genetics, National Center for Child Health and Development, Tokyo, Japan.; Department of Medical Genetics, National Center for Child Health and Development, Tokyo, Japan., Matsubara K; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.; Division of Diversity Research, National Research Institute for Child Health and Development, Tokyo, Japan., Fukami M; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.; Division of Diversity Research, National Research Institute for Child Health and Development, Tokyo, Japan., Nishina S; Division of Ophthalmology, National Center for Child Health and Development, Tokyo, Japan. nishina-s@ncchd.go.jp.; Center for Medical Genetics, National Center for Child Health and Development, Tokyo, Japan. nishina-s@ncchd.go.jp.
Source: Human genome variation [Hum Genome Var] 2026 Apr 06; Vol. 13 (1). Date of Electronic Publication: 2026 Apr 06.
Publication Type: Journal Article
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101652445 Publication Model: Electronic Cited Medium: Print ISSN: 2054-345X (Print) Linking ISSN: 2054345X NLM ISO Abbreviation: Hum Genome Var Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: Clinical features of syndromic microphthalmia in two novel RARB variants.
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  Data: <searchLink fieldCode="AU" term="%22Koyanagi+Y%22">Koyanagi Y</searchLink>; Division of Ophthalmology, National Center for Child Health and Development, Tokyo, Japan.; Department of Ophthalmology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.<br /><searchLink fieldCode="AU" term="%22Morikawa-Anzai+H%22">Morikawa-Anzai H</searchLink>; Division of Ophthalmology, National Center for Child Health and Development, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Yoshida+T%22">Yoshida T</searchLink>; Division of Ophthalmology, National Center for Child Health and Development, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Tominaga+M%22">Tominaga M</searchLink>; Showa Medical University Northern Yokohama Hospital, Center for Clinical Genetics and Genomic Medicine, Kanagawa, Japan.; Showa Medical University Northern Yokohama Hospital, Children's Center, Kanagawa, Japan.<br /><searchLink fieldCode="AU" term="%22Abe+Y%22">Abe Y</searchLink>; Division of Neurology, National Center for Child Health and Development, Tokyo, Japan.; Center for Medical Genetics, National Center for Child Health and Development, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Kosaki+R%22">Kosaki R</searchLink>; Center for Medical Genetics, National Center for Child Health and Development, Tokyo, Japan.; Department of Medical Genetics, National Center for Child Health and Development, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Matsubara+K%22">Matsubara K</searchLink>; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.; Division of Diversity Research, National Research Institute for Child Health and Development, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Fukami+M%22">Fukami M</searchLink>; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.; Division of Diversity Research, National Research Institute for Child Health and Development, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Nishina+S%22">Nishina S</searchLink>; Division of Ophthalmology, National Center for Child Health and Development, Tokyo, Japan. nishina-s@ncchd.go.jp.; Center for Medical Genetics, National Center for Child Health and Development, Tokyo, Japan. nishina-s@ncchd.go.jp.
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  Data: <searchLink fieldCode="JN" term="%22101652445%22">Human genome variation</searchLink> [Hum Genome Var] 2026 Apr 06; Vol. 13 (1). <i>Date of Electronic Publication: </i>2026 Apr 06.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Nature+Publishing+Group%22">Nature Publishing Group </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101652445 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Print <i>ISSN: </i>2054-345X (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%222054345X%22">2054345X </searchLink><i>NLM ISO Abbreviation: </i>Hum Genome Var <i>Subsets: </i>PubMed not MEDLINE
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        Value: 10.1038/s41439-026-00345-3
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        Text: English
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              Text: 2026 Apr 06
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