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February 16, 2024Deleted Journal

Focal dermal hypoplasia associated with pathogenic PORCN gene variant in postzygotic, unilateral mosaic form

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Authors

EKEleni KoutraELElke LusmöllerJFJudith Fischer

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Cite This Study

Koutra et al. (2024) studied this question.

synapsesocial.com/papers/68e78e41b6db643587700576https://doi.org/10.1007/s00105-024-05308-9
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1A rare case of Goltz syndrome: Clinical presentation and diagnostic challenges2026
  2. 2Surviving Males With <scp> <i>PORCN</i> </scp> Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum2026
  3. 3Phenotypes, Genetics, and Estimated Prevalence of Focal Dermal Hypoplasia (Goltz Syndrome): A Single‐Center Report2024 · 3 citations
  4. 4Blaschko‐Linear <scp>TGM1</scp> ‐ <scp>nEDD</scp> Associated With Mosaic Genome‐Wide Uniparental Isodisomy2026
  5. 5Cytogenetic and molecular evidence for cutaneous mosaicism: The ectodermal origin of Blaschko lines1999 · 82 citations