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Goltz Syndrome: A Newborn with Ectrodactyly and Skin Lesions
Goltz syndrome or Focal Dermal Hypoplasia is a rare multisystem disorder, involving all the three germ cell layers. The disease is thought to be inherited in X-linked dominant fashion with heterogeneous mutations of the PORCN gene at Xp11.23 locus. Majority of the cases are sporadic, mainly due to p...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Medknow Publications & Media Pvt Ltd
2015
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4372956/ https://www.ncbi.nlm.nih.gov/pubmed/25814752 http://dx.doi.org/10.4103/0019-5154.152608 |