IGNATIA VAN DEN VEYVER to Focal Dermal Hypoplasia
This is a "connection" page, showing publications IGNATIA VAN DEN VEYVER has written about Focal Dermal Hypoplasia.
Connection Strength
0.937
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Deletion of Porcn in mice leads to multiple developmental defects and models human focal dermal hypoplasia (Goltz syndrome). PLoS One. 2012; 7(3):e32331.
Score: 0.359
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Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia. Nat Genet. 2007 Jul; 39(7):836-8.
Score: 0.258
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Microphthalmia with linear skin defects (MLS), Aicardi, and Goltz syndromes: are they related X-linked dominant male-lethal disorders? Cytogenet Genome Res. 2002; 99(1-4):289-96.
Score: 0.177
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PORCN mutations and variants identified in patients with focal dermal hypoplasia through diagnostic gene sequencing. Genet Test Mol Biomarkers. 2010 Oct; 14(5):709-13.
Score: 0.081
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Characterization and physical mapping in human and mouse of a novel RING finger gene in Xp22. Genomics. 1998 Jul 15; 51(2):251-61.
Score: 0.035
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A rare human syndrome provides genetic evidence that WNT signaling is required for reprogramming of fibroblasts to induced pluripotent stem cells. Cell Rep. 2014 Dec 11; 9(5):1770-1780.
Score: 0.027