Eye Manifestations of Shprintzen–Goldberg Craniosynostosis Syndrome: A Case Report and Systematic Review

Shprintzen–Goldberg craniosynostosis syndrome (SGS) is a rare autosomal dominant condition that was first documented in literature in 1982. The disorder is caused by pathogenic variants in the proto-oncogene SKI gene, a known suppressor of TGF-β activity, located on chromosome 1p36. There is conside...

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Detalles Bibliográficos
Autores principales: Choi, Jamie H., Li, Rachel, Gannaway, Rachel, Causey, Tahnee N., Harrison, Anna, Couser, Natario L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7895601/
https://www.ncbi.nlm.nih.gov/pubmed/33628537
http://dx.doi.org/10.1155/2020/7353452

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