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Pseudohypoaldosteronism type 1b in fraternal twins of a Chinese family: report of two cases and literature review

Here, we report the clinical observations of two Chinese fraternal twins who presented with severe dehydration, poor feeding, and absence of stimuli responses within a few days of birth. Trio clinical exome sequencing of the family identified compound heterozygous intronic variants (c.1439+1G>C a...

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Detalles Bibliográficos
Autores principales: Gao, Zhen, Sun, Jingjing, Cai, Cheng, Gong, Xiaohui, Ma, Li
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Endocrinologia e Metabologia 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10665068/
https://www.ncbi.nlm.nih.gov/pubmed/37252702
http://dx.doi.org/10.20945/2359-3997000000620