Associated Papers
Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects.
Arlt A et al.
Orphanet Journal of Rare Diseases, 2022
35101074 (PubMed )
Supplement: 13023_2021_2068_MOESM1_ESM.xlsx › Tabelle1
Goltz syndrome in males: A clinical report of a male patient carrying a novel PORCN variant and a review of the literature.
Frisk S et al.
Clinical Case Reports, 2018
Focal dermal hypoplasia in a male patient due to mosaicism for a novel PORCN single nucleotide deletion.
Vreeburg M et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2011
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