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

Archives of endocrinology and metabolism - 12 May 2023

Gao Zhen, Sun Jingjing, Cai Cheng, Gong Xiaohui, Ma Li

Abstract excerpt

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 and c.875+1G>A ) in SCNN1A gene in these two patients. Sanger sequencing results showed that the c.1439+1G>C variant was...

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Identifiers

PMID: 37252702
DOI: 10.20945/2359-3997000000620
PMCID: PMC10665068

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