Identification of a <scp>PORCN</scp> c. <scp>1093C</scp> >T (p. <scp>Arg365Trp</scp> ) Variant in a 12‐Year‐Old Girl With Goltz–Gorlin Syndrome
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.
Authors
- Lisa Passaglia
- Francesca Boaretto (ORCID: https://orcid.org/0000-0003-2015-929X)
- Leonardo Salviati (ORCID: https://orcid.org/0000-0001-5642-9963)
- Anna Bolzon (ORCID: https://orcid.org/0009-0009-1626-0855)
- Anna Belloni Fortina
- Francesca Caroppo
Institutions
- University of Padua (IT)
- Città della Speranza Foundation (IT)
Publication Details
- Journal
- Clinical Case Reports
- Published
- 2026-02-01
- DOI
- https://doi.org/10.1002/ccr3.71592
- Primary Topic
- Hedgehog Signaling Pathway Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00