Last Posted: Dec 10, 2020
- Characterization of syndromic, non-syndromic familial, and sporadic Type B Aortic Dissection.
Shalhub Sherene et al. Journal of vascular surgery 2020 Nov
- Molecular Genetics and Pathogenesis of Ehlers-Danlos Syndrome and Related Connective Tissue Disorders.
Ritelli Marco et al. Genes 2020 May 11(5)
- Ehlers-Danlos syndromes
N Ghali et al, BMJ, September 18, 2019
- Ehlers-Danlos syndromes.
Ghali Neeti, et al. BMJ (Clinical research ed.) 2019 9 0. l4966
- Ehlers-Danlos syndrome and other heritable connective tissue disorders that impact pregnancies can be detected using next-generation DNA sequencing.
VanderJagt Krystal et al. Archives of gynecology and obstetrics 2019 Jun
- Ehlers-Danlos syndromes: state of the art on clinical practice guidelines.
Sulli Alberto et al. RMD open 2018 4(Suppl 1) e000790
- [Association of polymorphism of 1800255 COL3A1 gene with pelvic organ prolapse and urinary incontinence in women: preliminary data].
Kasyan G R, et al. Urologiia (Moscow, Russia : 1999) 2017 12 (6) 30-33
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.