Dentinogenesis Imperfecta
What's New
Last Posted: Mar 31, 2023
- Unequal Impact of COL1A1 and COL1A2 Variants on Dentinogenesis Imperfecta.
Yamaguti P M, et al. Journal of dental research 2023 0 220345231154569 - Novel Mutations in PLOD2 Cause Rare Bruck Syndrome.
Lv Fang, et al. Calcified tissue international 2017 0 (3) 296-309 - Genotype-phenotype correlation among Malaysian patients with osteogenesis imperfecta.
Mohd Nawawi Nadiah, et al. Clinica chimica acta; international journal of clinical chemistry 2018 0 141-147 - Novel compound heterozygous mutations in SERPINH1 cause rare autosomal recessive osteogenesis imperfecta type X.
Song Y, et al. Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 2018 0 (6) 1389-1396 - Genotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patients.
Maioli Margherita, et al. European journal of human genetics : EJHG 2019 0 (7) 1090-1100 - NOVEL MUTATIONS IN THE WNT1, TMEM38B, P4HB, AND PLS3 GENES IN FOUR UNRELATED CHINESE FAMILIES WITH OSTEOGENESIS IMPERFECTA.
Cao Yang-Jia, et al. Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2019 0 (3) 230-241 - High bone mass phenotype in a cohort of patients with Osteogenesis Imperfecta caused due to BMP1 and C-propeptide cleavage variants in COL1A1.
Campanini E H, et al. Bone reports 2021 0 101102 - Genotype-phenotype relationship in a large cohort of osteogenesis imperfecta patients with COL1A1 mutations revealed by a new scoring system.
Li Lu-Jiao, et al. Chinese medical journal 2019 0 (2) 145-153 - Genotype-Phenotype Relationship and Follow-up Analysis of a Chinese Cohort With Osteogenesis Imperfecta.
Wei Shuoshuo, et al. Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2022 5 - Molecular diagnosis in children with fractures but no extraskeletal signs of osteogenesis imperfecta.
Bardai G et al. Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 2017 28(7) 2095-2101
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Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
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- Graves Disease
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- Phenylketonuria
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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
- Page last updated:May 18, 2024
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