Last Posted: Mar 04, 2023
- Genome-wide association analysis for lethal brachycephalic-like facial dysmorphia in Labrador Retrievers.
Vasiliadis D, et al. Animal genetics 2019 0 (1) 122-126
- [Prenatal diagnosis and genetic analysis of a fetus with Xp22.12 microduplication].
Zeng Lina, et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 0 (8) 863-866
- Coffin-Lowry Syndrome Induced by RPS6KA3 Gene Variation in China: A Case Report in Twins.
Jin Huiying, et al. Medicina (Kaunas, Lithuania) 2022 0 (7)
- Next-generation sequencing identifies rare variants associated with Noonan syndrome.
Chen Peng-Chieh, et al. Proceedings of the National Academy of Sciences of the United States of America 2014 8 (31) 11473-8
- Preliminary investigation of the influence of CREB1 gene polymorphisms on cognitive dysfunction in Chinese patients with major depression.
Guo Junhui, et al. The International journal of neuroscience 2014 1 (1) 22-9
- Applying and testing the conveniently optimized enzyme mismatch cleavage method to clinical DNA diagnosis.
Niida Yo, et al. Molecular genetics and metabolism 2012 11 (3) 580-5
- Coffin-Lowry syndrome
From NCATS Genetic and Rare Diseases Information Center
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:Jun 07, 2023
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