Bartter Syndrome Type 3
What's New
Last Posted: Aug 31, 2023
- Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions.
Nikolai Tschernoster, et al. Genome medicine 2023 0 (1) 62 - Rare diseases caused by abnormal calcium sensing and signalling.
T?ke Judit, et al. Endocrine 2021 0 (3) 611-617 - Digenic mutations involving both the BSND and GJB2 genes detected in Bartter syndrome type IV.
Wang Hong-Han, et al. International journal of pediatric otorhinolaryngology 2016 0 17-20 - Thirteen novel CLCNKB variants and genotype/phenotype association study in 42 Chinese patients with Bartter syndrome type 3.
Han Yue, et al. Endocrine 2019 12 - Association of Mutations in SLC12A1 Encoding the NKCC2 Cotransporter With Neonatal Primary Hyperparathyroidism.
Li Dong, et al. The Journal of clinical endocrinology and metabolism 2016 3 jc20161211 - Bartter syndrome type 3
From NCATS Genetic and Rare Diseases Information Center - Bartter syndrome type 4
From NCATS Genetic and Rare Diseases Information Center - Common variants in genes underlying monogenic hypertension and hypotension and blood pressure in the general population.
Tobin Martin D, et al. Hypertension 2008 6 (6) 1658-64
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
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch 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, 2024
- Content source: