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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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| Udgivet i: | Am J Med Genet C Semin Med Genet |
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| Main Authors: | , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
2018
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| Fag: | |
| Online adgang: | 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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