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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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Bibliografiske detaljer
Udgivet i:Am J Med Genet C Semin Med Genet
Main Authors: Moog, Ute, Dobyns, William B.
Format: Artigo
Sprog:Inglês
Udgivet: 2018
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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