Renal coloboma syndrome/dominant optic atrophy with severe retinal atrophy and de novo digenic mutations in PAX2 and OPA1.
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| Title: | Renal coloboma syndrome/dominant optic atrophy with severe retinal atrophy and de novo digenic mutations in PAX2 and OPA1. |
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| Authors: | Shimabukuro W; Department of Child Health and Welfare (Pediatrics), Graduate School of Medicine, University of the Ryukyus, 207 Uehara, Nishihara-Cho, Nakagami-Gun, Okinawa, 903-0215, Japan., Chinen Y; Department of Child Health and Welfare (Pediatrics), Graduate School of Medicine, University of the Ryukyus, 207 Uehara, Nishihara-Cho, Nakagami-Gun, Okinawa, 903-0215, Japan.; Genetic Counseling Unit, University of the Ryukyus Hospital, Nishihara, Okinawa, Japan., Imanaga N; Department of Ophthalmology, Graduate School of Medicine, University of the Ryukyus, Nishihara, Okinawa, Japan., Yanagi K; Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan., Kaname T; Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan., Nakanishi K; Department of Child Health and Welfare (Pediatrics), Graduate School of Medicine, University of the Ryukyus, 207 Uehara, Nishihara-Cho, Nakagami-Gun, Okinawa, 903-0215, Japan. knakanis@med.u-ryukyu.ac.jp.; Genetic Counseling Unit, University of the Ryukyus Hospital, Nishihara, Okinawa, Japan. knakanis@med.u-ryukyu.ac.jp. |
| Source: | Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2024 Aug; Vol. 39 (8), pp. 2351-2353. Date of Electronic Publication: 2024 Mar 11. |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Springer International Country of Publication: Germany NLM ID: 8708728 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-198X (Electronic) Linking ISSN: 0931041X NLM ISO Abbreviation: Pediatr Nephrol Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1432-198X |
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| DOI: | 10.1007/s00467-024-06347-z |
