Associated Papers
Two new patients with focal dermal hypoplasia: A novel PORCN variant and insights on the diagnostic considerations.
Elhossini RM et al.
Congenital Anomalies, 2022
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
A Comprehensive Overview of Skeletal Phenotypes Associated with Alterations in Wnt/β-catenin Signaling in Humans and Mice.
Maupin KA et al.
Bone Research, 2013
Deletion of Porcn in mice leads to multiple developmental defects and models human focal dermal hypoplasia (Goltz syndrome).
Liu W et al.
Plos One, 2012
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
Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia.
Grzeschik KH et al.
Nature Genetics, 2007
Phenotypes, Genetics, and Estimated Prevalence of Focal Dermal Hypoplasia (Goltz Syndrome): A Single-Center Report.
Herlin LK et al.
Pediatric Dermatology, 0
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