Last Posted: Feb 20, 2023
- A large cohort of disorders of sex development and their genetic characteristics: 6 novel mutations in known genes.
Ata Aysun, et al. European journal of medical genetics 2021 0 (3) 104154
- Association of the CYP19A1 rs700518 Polymorphism with Selected Markers of Bone Metabolism in Women with Hyperandrogenism.
Uzar Izabela, et al. Journal of clinical medicine 2022 0 (12)
- Molecular diagnostics of disorders of sexual development: an Indian survey and systems biology perspective.
Nagaraja M R et al. Systems biology in reproductive medicine 2019 Apr 65(2) 105-120
- Aromatase deficiency
From NCATS Genetic and Rare Diseases Information Center
- Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients.
Fukami Maki, et al. The Journal of clinical endocrinology and metabolism 2009 5 (5) 1723-31
- CYP17 polymorphism and tamoxifen-induced hepatic steatosis.
Ohnishi Takenao, et al. Hepatology research : the official journal of the Japan Society of Hepatology 2005 10 (2) 178-80
- No evidence of mutations in the P450 aromatase gene in patients with polycystic ovary syndrome.
Söderlund D, et al. Human reproduction (Oxford, England) 2005 4 (4) 965-9
About Rare Diseases PHGKB
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
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics 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, 2023
- Page last updated:Mar 20, 2023
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