One-month-old girl presenting with pseudohypoaldosteronism leading to the diagnosis of CDK13-related disorder: a case report and review of the literature

BACKGROUND: It is not uncommon that an infant with a disease of unknown etiology is presented to a physician. Facial dysmorphic features lead to a different diagnosis. It is a challenge to link the presentation to the newfound diagnosis. CASE PRESENTATION: A 37-day-old Yemenite Jewish girl was prese...

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Detalles Bibliográficos
Autores principales: Yakubov, Renata, Ayman, Asaly, Kremer, Adi Klein, van den Akker, Machiel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6935476/
https://www.ncbi.nlm.nih.gov/pubmed/31883531
http://dx.doi.org/10.1186/s13256-019-2319-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6935476/
https://www.ncbi.nlm.nih.gov/pubmed/31883531
http://dx.doi.org/10.1186/s13256-019-2319-x

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