Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia by Grzeschik Karl-Heinz, Bornholdt Dorothea, Oeffner Frank, König Arne, del Carmen Boente María, Enders Herbert, Fritz Barbara, Hertl Michael, Grasshoff Ute, Höfling Katja, Oji Vinzenz, Paradisi Mauro, Schuchardt Christian, Szalai Zsuzsanna, Tadini Gianluca, Traupe Heiko, Happle Rudolf in Nature genetics (2007).

[PMID: 17546031] PubMed

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