Last Posted: Nov 28, 2018
- Management of Denys-Drash syndrome: A case series based on an international survey.
Gariépy-Assal Laurence et al. Clinical nephrology. Case studies 2018 636-44
- Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit.
Daoud Hussein et al. CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne 2016 May
- Denys-Drash syndrome
From NCATS Genetic and Rare Diseases Information Center
- WT1 mutations in nephrotic syndrome revisited. High prevalence in young girls, associations and renal phenotypes.
Aucella Filippo, et al. Pediatric nephrology (Berlin, Germany) 2006 10 (10) 1393-8
- Twenty-four new cases of WT1 germline mutations and review of the literature: genotype/phenotype correlations for Wilms tumor development.
Royer-Pokora Brigitte, et al. American journal of medical genetics. Part A 2004 6 (3) 249-57
- WT1 gene analysis in sporadic early-onset and bilateral wilms tumor patients without associated abnormalities.
Perotti Daniela, et al. Journal of pediatric hematology/oncology 2005 4 (4) 197-201
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.