Clinical features of syndromic microphthalmia in two novel RARB variants.

Saved in:
Bibliographic Details
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
Description
ISSN:2054-345X
DOI:10.1038/s41439-026-00345-3