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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...
Tallennettuna:
| Julkaisussa: | Am J Med Genet C Semin Med Genet |
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| Päätekijät: | , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
2018
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| Aiheet: | |
| Linkit: | 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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