Congenital Chloride Diarrhea
What's New
Last Posted: Mar 15, 2023
- Bartter Syndrome-Related Variants Distribution: Brazilian Data and Its Comparison with Worldwide Cohorts.
Vaisbich Maria Helena, et al. Nephron 2023 0 1-18 - A missense mutation in SLC26A3 is associated with human male subfertility and impaired activation of CFTR.
Wedenoja Satu, et al. Scientific reports 2017 0 (1) 14208 - Clinical Features, Molecular Genetics, and Long-Term Outcome in Congenital Chloride Diarrhea: A Nationwide Study in Japan.
Konishi Ken-Ichiro, et al. The Journal of pediatrics 2019 0 151-157.e6 - Twelve Novel Mutations in the SLC26A3 Gene in 17 Sporadic Cases of Congenital Chloride Diarrhea.
Amato Felice, et al. Journal of pediatric gastroenterology and nutrition 2017 6 (1) 26-30 - The utility of next generation sequencing in the correct diagnosis of congenital hypochloremic hypokalemic metabolic alkalosis.
Ben-David Yael et al. European journal of medical genetics 2019 Jul 103728 - Exome Sequencing in Clinical Hepatology.
Vilarinho Sílvia et al. Hepatology (Baltimore, Md.) 2019 Jun - Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis.
Najafi Maryam et al. Orphanet journal of rare diseases 2019 Feb 14(1) 41 - Finland is a powerhouse for gathering genetic clues about rare diseases
N Sengupta, Broadminded Blog, May 1, 2018 - Congenital chloride diarrhea
From NCATS Genetic and Rare Diseases Information Center
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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
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