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
Goltz syndrome and PORCN mosaicism.
Stevenson DA et al.
International Journal of Dermatology, 2014
PORCN mutations and variants identified in patients with focal dermal hypoplasia through diagnostic gene sequencing.
Fernandes PH et al.
Genetic Testing and Molecular Biomarkers, 2010
Novel PORCN mutations in focal dermal hypoplasia.
Froyen G et al.
Clinical Genetics, 2009
PORCN gene mutations and the protean nature of focal dermal hypoplasia.
Clements SE et al.
The British Journal of Dermatology, 2009
PORCN mutations in focal dermal hypoplasia: coping with lethality.
Bornholdt D et al.
Human Mutation, 2009
Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia.
Wang X et al.
Nature Genetics, 2007
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