Sclerocornea Associated With the Chromosome 22q11.2 Deletion Syndrome

Reported ocular findings in the 22q11.2 deletion syndrome (which encompasses the phenotypes of DiGeorge, velocardiofacial, and Takao (conotruncal-anomaly-face) syndromes) have included posterior embryotoxon (prominent, anteriorly displaced Schwalbe’s line at the corneal limbus or edge), retinal vasc...

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Autores principales: Binenbaum, Gil, McDonald-McGinn, Donna M., Zackai, Elaine H., Walker, B. Michael, Coleman, Karlene, Mach, Amy M., Adam, Margaret, Manning, Melanie, Alcorn, Deborah M., Zabel, Carrie, Anderson, Dennis R., Forbes, Brian J.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2008
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2831198/
https://ncbi.nlm.nih.gov/pubmed/18324686
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.32156
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