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  • Focal dermal hypoplasia Relevant markers:
    Asymmetric IUGR/SGAOligodactyly of toesThoraco-abdominal wall defectUterine MalformationMicrotia
    Parents markers:
    EctrodactylyPyelectasis/hydronephrosisSyndactyly of fingers
      Involved genes:
      (gene — definition — chromosome)      		PORCN — PORCUPINE, DROSOPHILA, HOMOLOG OF — Xp11.23
      Inheritance mode:X-linked dominant
      Other online databases:OrphaNet, OMIM
      References:
      2016 Am J Med Genet A 3 Cases and review Read on PubMed
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