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Article

Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects.

Orphanet journal of rare diseases - 31 Jan 2022

Arlt Annabelle, Kohlschmidt Nicolai, Hentschel Andreas, Bartels Enrika, Groß Claudia, Töpf Ana, Edem Pınar, Szabo Nora, Sickmann Albert, Meyer Nancy, Schara-Schmidt Ulrike, Lau Jarred, Lochmüller Hanns, Horvath Rita, Oktay Yavuz, Roos Andreas, Hiz Semra

Abstract excerpt

BACKGROUND: Goltz syndrome (GS) is a X-linked disorder defined by defects of mesodermal- and ectodermal-derived structures and caused by PORCN mutations. Features include striated skin-pigmentation, ocular and skeletal malformations and supernumerary or hypoplastic nipples. Generally, GS is associated with in utero lethality in males and most of the reported male patients show mosaicism (only three non-mosaic...

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PMID: 35101074
DOI: 10.1186/s13023-021-02068-w
PMCID: PMC8802438

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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