Work

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

Year: 2026

Type: article

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.

Source: Clinical Case Reports

DOI: 10.1002/ccr3.71592

Authors: Anna Bolzon, Francesca Caroppo, Lisa Passaglia, Francesca Boaretto, Leonardo Salviati, Anna Belloni Fortina

Institution: University of Padua

Language: English

Topic: Genetic and rare skin diseases.

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,820

OpenAlex ID: W7127353768

FWCI:

Cites: 8

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