Congenital central hypoventilation syndrome in children: a Hong Kong perspective

Variants in PHOX2B gene result in increased polyalanine repeat expansion mutations (PARMs) and decreased transcription of PHOX2B.18 19 Most patients with CCHS have a heterozygous in-frame PARM that encodes 24 to 33 alanines, producing genotypes 20/24 to 20/33; genotypes 20/26, 20/27, and 20/28 are p...

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