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An update on oculocerebrocutaneous (Delleman-Oorthuys) syndrome
Oculocerebrocutaneous syndrome (OCCS) is a rare disorder characterized primarily by congenital skin, eye and brain anomalies. The most distinctive findings are hypoplastic or aplastic skin defects; pedunculated, typically hamartomatous, or nodular skin appendages; cystic microphthalmia; and a combin...
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| Publicat a: | Am J Med Genet C Semin Med Genet |
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| Autors principals: | , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2018
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6501825/ https://ncbi.nlm.nih.gov/pubmed/30580480 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.c.31667 |
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