Osteogenesis Imperfecta
What's New
Last Posted: Apr 21, 2023
- Prevalence of Monogenic Bone Disorders in a Dutch Cohort of Atypical Femur Fracture Patients.
Wei Zhou et al. J Bone Miner Res - From Genetics to Clinical Implications: A Study of 675 Dutch Osteogenesis Imperfecta Patients.
Silvia Storoni et al. Biomolecules 2023 13(2) - Functional Independence of Taiwanese Children with Osteogenesis Imperfecta.
Syu Yu-Min et al. Journal of personalized medicine 2022 12(8) - Prevalence and Hospital Admissions in Patients With Osteogenesis Imperfecta in The Netherlands: A Nationwide Registry Study.
Storoni Silvia et al. Frontiers in endocrinology 2022 13869604 - Understanding Musculoskeletal Disorders Through Next-Generation Sequencing.
Garg Bhavuk et al. JBJS reviews 2022 10(4) - Over-Representation of Recessive Osteogenesis Imperfecta in Asian Indian Children.
Panigrahi Inusha et al. Journal of pediatric genetics 2022 11(1) 81-86 - Standardizing genetic and metabolic consults for non-accidental trauma at a large pediatric academic center.
Hildebrandt Clara et al. Child abuse & neglect 2022 125105480 - Diagnostic yield of clinical exome sequencing as a first-tier genetic test for the diagnosis of genetic disorders in pediatric patients: results from a referral center study.
Mergnac Jean-Philippe et al. Human genetics 2021 - Osteogenesis Imperfecta and hearing loss in the paediatric population.
Joseph Judith K et al. International journal of pediatric otorhinolaryngology 2021 150110914 - Clinical trials in skeletal dysplasia: a paradigm for treating rare diseases.
Sabir Ataf et al. British medical bulletin 2021
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Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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
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