Associated Papers
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
A nonsense porcn mutation in severe focal dermal hypoplasia with natal teeth.
Dias C et al.
Fetal and Pediatric Pathology, 2010
Novel PORCN mutations in focal dermal hypoplasia.
Froyen G et al.
Clinical Genetics, 2009
PORCN mutations in focal dermal hypoplasia: coping with lethality.
Bornholdt D et al.
Human Mutation, 2009
Select a paper to view details