A novel COL1A1 deletion/insertion pathogenic variant in a patient with osteogenesis imperfecta.
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| Title: | A novel COL1A1 deletion/insertion pathogenic variant in a patient with osteogenesis imperfecta. |
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| Authors: | Yamada C; Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan., Kubota T; Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan., Ishimi T; Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan., Takeyari S; Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan., Yamamoto K; Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan.; Department of Statistical Genetics, Osaka University Graduate School of Medicine, Osaka, Japan., Nakayama H; Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan., Ohata Y; Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan., Fujiwara M; Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan.; The 1st. Department of Oral and Maxillofacial Surgery, Osaka University Graduate School of Dentistry, Osaka, Japan., Kitaoka T; Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan., Ozono K; Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan. |
| Source: | Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology [Clin Pediatr Endocrinol] 2022; Vol. 31 (3), pp. 205-208. Date of Electronic Publication: 2022 Jun 17. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Jeff Corporation Co Country of Publication: Japan NLM ID: 9433330 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0918-5739 (Print) Linking ISSN: 09185739 NLM ISO Abbreviation: Clin Pediatr Endocrinol Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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