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BACKGROUND Congenital chloride diarrhea (CLD; OMIM 21470 is a rare autosomal recessive disorder caused by pathogenic variations in the solute carrier family 26 member A3 (SLC26A3) gene. Without salt substitution, this chronic diarrheal disorder causes severe dehydration and electrolyte disturbances. Homozygous variants in the nearby gene SLC26A4 disrupt anion exchange in the inner ear and the thyroid, causing Pendred syndrome (PDS; OMIM 27460, which is the most frequent form of syndromic deafness. CASE PRESENTATION We report an unusual
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