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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Sociedade Brasileira de Endocrinologia e Metabologia
2023
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| 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 |