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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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Dades bibliogràfiques
Publicat a:Am J Med Genet C Semin Med Genet
Autors principals: Moog, Ute, Dobyns, William B.
Format: Artigo
Idioma:Inglês
Publicat: 2018
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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