Novel solute carrier family 26, member 3 mutation in a prenatal recurrent case with congenital chloride diarrhea

Congenital chloride diarrhea (CCD) is an autosomal recessive hereditary disease manifested by persistent, watery, profuse diarrhea with high chloride concentration (>90 mmol/L). Postnatally, neonates suffer from hypochloremia, hyponatremia, hypokalemia, metabolic alkalosis, dehydration, developme...

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Detalles Bibliográficos
Autores principales: Wu, Siqi, Han, Jin, Zhang, Yongling, Ye, Zhichao, Lu, Ping, Tian, Kege
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons Australia, Ltd 2019
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6899882/
https://www.ncbi.nlm.nih.gov/pubmed/31499577
http://dx.doi.org/10.1111/jog.14089

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6899882/
https://www.ncbi.nlm.nih.gov/pubmed/31499577
http://dx.doi.org/10.1111/jog.14089

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