Identification of a PORCN c. 1093C >T (p. Arg365Trp ) Variant in a 12‐Year‐Old Girl With Goltz–Gorlin Syndrome

Clinical Case Reports 2026 Open access

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Authors: Anna Bolzon, Francesca Caroppo, Lisa Passaglia, Francesca Boaretto, Leonardo Salviati, Anna Belloni Fortina
DOI: 10.1002/ccr3.71592
Cited by: 0
References: 8

Abstract

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.

Fields of Study & Subjects

Genetic and rare skin diseases. Genomics and Rare Diseases Hedgehog Signaling Pathway Studies

Publication details

Journal / source
Clinical Case Reports
Volume
14
Issue
2
Pages
e71592–e71592
Publication date
1 February 2026
Language
EN