Novel variant causing OTUD6B-related syndrome with ocular dysplasia and hypothyroidism: the first Chinese case.
Saved in:
| Title: | Novel variant causing OTUD6B-related syndrome with ocular dysplasia and hypothyroidism: the first Chinese case. |
|---|---|
| Authors: | Chen J; Pediatric Rehabilitation Medicine, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China., Gao D; Pediatric Rehabilitation Medicine, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China., Hu J; Pediatric Rehabilitation Medicine, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China., Xu K; Chigene (Beijing) Translational Medical Research Center Co., Ltd., Beijing, P.R. China., Gu W; Chigene (Beijing) Translational Medical Research Center Co., Ltd., Beijing, P.R. China., Li J; Pediatric Rehabilitation Medicine, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China. 154899649@qq.com., Zhu H; Pediatric Rehabilitation Medicine, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China. zhuyan44@163.com. |
| Source: | BMC pediatrics [BMC Pediatr] 2025 Nov 04; Vol. 25 (1), pp. 905. Date of Electronic Publication: 2025 Nov 04. |
| Publication Type: | Journal Article; Case Reports |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 100967804 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2431 (Electronic) Linking ISSN: 14712431 NLM ISO Abbreviation: BMC Pediatr Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
|
Full text is not displayed to guests.
Login for full access.
|
|
| ISSN: | 1471-2431 |
|---|---|
| DOI: | 10.1186/s12887-025-06272-6 |
