Last Posted: Feb 18, 2023
- Genetic and clinical phenotypic analysis of carney complex with external auditory canal myxoma.
Wan Wei, et al. Frontiers in genetics 2022 0 947305
- A novel splice site mutation of the PRKAR1A gene, C.440+5 G>C, in a Chinese family with Carney complex.
Fu J, et al. Journal of endocrinological investigation 2018 0 (8) 909-917
- Familial non-medullary thyroid carcinoma: clinico-pathological features, current knowledge and novelty regarding genetic risk factors.
Cirello Valentina et al. Minerva endocrinologica 2020 Oct
- Predicting the risk of cardiac myxoma in Carney complex.
Pitsava Georgia et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Sep
- Liver findings in patients with Carney complex, germline PRKAR1A pathogenic variants, and link to cardiac myxomas.
Tirosh Amit, et al. Endocrine-related cancer 2020 4
- Current Knowledge of Germline Genetic Risk Factors for the Development of Non-Medullary Thyroid Cancer.
Hincza Kinga et al. Genes 2019 Jun 10(7)
- Primary cardiac tumors associated with genetic syndromes: a comprehensive review.
Lee Elizabeth et al. Pediatric radiology 2018 48(2) 156-164
- Long-read genome sequencing identifies causal structural variation in a Mendelian disease.
Merker Jason D et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jan 20(1) 159-163
- Microinsertions in PRKACA cause activation of the protein kinase A pathway in cardiac myxoma.
Tseng I-Ching, et al. The Journal of pathology 2017 3
- Familial non-medullary thyroid cancer: unraveling the genetic maze.
Peiling Yang Samantha et al. Endocrine-related cancer 2016 Dec 23(12) R577-R595
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:May 30, 2023
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