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Confirmation and Refinement of the Heterozygous Deletion of the Small Leucine-rich Proteoglycans Associated with Posterior Amorphous Corneal Dystrophy

PURPOSE: To present the clinical and cytogenetic features of a previously unreported family with posterior amorphous corneal dystrophy (PACD) associated with a heterozygous deletion of the small leucine-rich proteoglycan genes on chromosome 12. METHODS: Clinical characterization was performed using...

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Détails bibliographiques
Publié dans:Ophthalmic Genet
Auteurs principaux: Cervantes, Aleck E., Gee, Katherine M., Whiting, Martha F., Frausto, Ricardo F., Aldave, Anthony J.
Format: Artigo
Langue:Inglês
Publié: 2018
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6309915/
https://ncbi.nlm.nih.gov/pubmed/29671669
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/13816810.2018.1459736
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