Osteogenesis Imperfecta Type V
What's New
Last Posted: Mar 06, 2023
- 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 - Hybrid minigene splicing assay verifies the pathogenicity of a novel splice site variant in the COL1A1 gene of a chinese patient with osteogenesis imperfecta type I.
Lin Yuxiang, et al. Injury 2019 0 (12) 2215-2219 - Expanding the Clinical Spectrum of Osteogenesis Imperfecta Type V: 13 Additional Patients and Review.
Cao Yang-Jia, et al. Frontiers in endocrinology 2019 0 375 - A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound.
Corsten-Janssen Nicole, et al. Prenatal diagnosis 2020 0 (10) 1300-1309 - Case report: Early-onset osteoporosis in a patient carrying a novel heterozygous variant of the WNT1 gene.
Campopiano Maria Cristina, et al. Frontiers in endocrinology 2022 0 918682 - Mutations in COL1A1 and COL27A1 Associated with a Pectus Excavatum Phenotype in 2 Siblings with Osteogenesis Imperfecta.
Cruz-Centeno Nelimar, et al. The American journal of case reports 2022 0 e935526 - Osteogenesis imperfecta type 3 in South Africa: Causative mutations in FKBP10.
Vorster Alvera, et al. South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde 2017 4 (5) 457-462 - Osteogenesis imperfecta type V: Genetic and clinical findings in eleven Chinese patients.
Liu Yi, et al. Clinica chimica acta; international journal of clinical chemistry 2016 11 201-209 - Osteogenesis imperfecta Type I caused by a novel mutation in the start codon of the COL1A1 gene in a Korean family.
Cho Sung Yoon, et al. Annals of clinical and laboratory science 2015 0 (1) 100-5 - Osteogenesis imperfecta type I
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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
- 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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