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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.
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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  Data: A novel COL1A1 deletion/insertion pathogenic variant in a patient with osteogenesis imperfecta.
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  Data: <searchLink fieldCode="AU" term="%22Yamada+C%22">Yamada C</searchLink>; Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan.<br /><searchLink fieldCode="AU" term="%22Kubota+T%22">Kubota T</searchLink>; Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan.<br /><searchLink fieldCode="AU" term="%22Ishimi+T%22">Ishimi T</searchLink>; Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan.<br /><searchLink fieldCode="AU" term="%22Takeyari+S%22">Takeyari S</searchLink>; Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan.<br /><searchLink fieldCode="AU" term="%22Yamamoto+K%22">Yamamoto K</searchLink>; Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan.; Department of Statistical Genetics, Osaka University Graduate School of Medicine, Osaka, Japan.<br /><searchLink fieldCode="AU" term="%22Nakayama+H%22">Nakayama H</searchLink>; Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan.<br /><searchLink fieldCode="AU" term="%22Ohata+Y%22">Ohata Y</searchLink>; Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan.<br /><searchLink fieldCode="AU" term="%22Fujiwara+M%22">Fujiwara M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Kitaoka+T%22">Kitaoka T</searchLink>; Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan.<br /><searchLink fieldCode="AU" term="%22Ozono+K%22">Ozono K</searchLink>; Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan.
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  Data: <searchLink fieldCode="JN" term="%229433330%22">Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology</searchLink> [Clin Pediatr Endocrinol] 2022; Vol. 31 (3), pp. 205-208. <i>Date of Electronic Publication: </i>2022 Jun 17.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Jeff+Corporation+Co%22">Jeff Corporation Co </searchLink><i>Country of Publication: </i>Japan <i>NLM ID: </i>9433330 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Print <i>ISSN: </i>0918-5739 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2209185739%22">09185739 </searchLink><i>NLM ISO Abbreviation: </i>Clin Pediatr Endocrinol <i>Subsets: </i>PubMed not MEDLINE
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        Value: 10.1297/cpe.2022-0027
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              Text: 2022
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