Associated Papers
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
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
Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia.
Grzeschik KH et al.
Nature Genetics, 2007
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