Case report details a combination of heterozygous PNPLA6 mutations with unique phenotypic presentation, suggesting new classifications.
To present a case of a combination of heterozygous PNPLA6 gene mutations with one gene mutation being previously unreported with a phenotype not fitting in the currently defined syndromic categories of PNPLA6 variants.
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Blackbourn et al. (2026) studied this question.
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