Sclerocornea in a Patient with Van Den Ende–Gupta Syndrome Homozygous for a SCARF2 Microdeletion

Van den Ende–Gupta Syndrome (VDEGS) is an autosomal recessive disorder characterized by blepharophimosis, distinctive nose, hypoplastic maxilla, and skeletal abnormalities. Using homozygosity mapping in four VDEGS patients from three consanguineous families, Anastacio et al. [Anastacio et al. (2010)...

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Détails bibliographiques
Publié dans:Am J Med Genet A
Auteurs principaux: Migliavacca, Michele P., Sobreira, Nara L. M., Antonialli, Graziela P.M., Oliveira, Mariana M., Melaragno, Maria Isabel S.A., Casteels, Ingele, de Ravel, Thomy, Brunoni, Decio, Valle, David, Perez, Ana Beatriz A.
Format: Artigo
Langue:Inglês
Publié: 2014
Sujets:
Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4294186/
https://ncbi.nlm.nih.gov/pubmed/24478002
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.36425
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