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Case report reveals focal dermal hypoplasia linked to mutations in the PORCN gene, indicating potential genetic implications.
Focal dermal hypoplasia (FDH), also known as Goltz syndrome or Goltz–Gorlin syndrome, is an extremely rare X-linked dominant multisystem genodermatosis caused by mutations in the PORCN gene on the X chromosome.
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Mohammad Ali Alshami (2025) studied this question.
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