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Case report identifies a PORCN variant in a girl with Goltz–Gorlin syndrome, suggesting new insights into genetic diversity.
We report the first female case of Goltz–Gorlin syndrome with the PORCN c.1093C>T (p.Arg365Trp) variant, previously described only in a male with Klinefelter syndrome. This case expands the known phenotypic and genotypic spectrum of FDH.
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Bolzon et al. (2026) studied this question.
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