doi: 10.1038/ng2057.
Epub 2007 Jun 3.
Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia
Affiliations
- PMID: 17546030
- DOI: 10.1038/ng2057
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Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia
Nat Genet.
2007 Jul.
Abstract
Focal dermal hypoplasia is an X-linked dominant disorder characterized by patchy hypoplastic skin and digital, ocular and dental malformations. We used array comparative genomic hybridization to identify a 219-kb deletion in Xp11.23 in two affected females. We sequenced genes in this region and found heterozygous and mosaic mutations in PORCN in other affected females and males, respectively. PORCN encodes the human homolog of Drosophila melanogaster porcupine, an endoplasmic reticulum protein involved in secretion of Wnt proteins.
Comment in
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Wnt signaling in focal dermal hypoplasia.Nat Genet. 2007 Jul;39(7):820-1. doi: 10.1038/ng0707-820. Nat Genet. 2007. PMID: 17597772 No abstract available.
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