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Zygotic Porcn Paternal Allele Deletion in Mice to Model Human Focal Dermal Hypoplasia
In mouse and humans, the X-chromosomal Porcupine homolog (Porcn) gene is required for the acylation and secretion of all 19 Wnt ligands, thus representing a bottleneck in the secretion of Wnt ligands. In humans, mutations in PORCN cause the X-linked dominant syndrome Focal Dermal Hypoplasia (FDH, OM...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Public Library of Science
2013
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3815152/ https://www.ncbi.nlm.nih.gov/pubmed/24223895 http://dx.doi.org/10.1371/journal.pone.0079139 |