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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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Detalhes bibliográficos
Publicado no:Case Rep Genet
Main Authors: Choi, Jamie H., Li, Rachel, Gannaway, Rachel, Causey, Tahnee N., Harrison, Anna, Couser, Natario L.
Formato: Artigo
Idioma:Inglês
Publicado em: Hindawi 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7895601/
https://ncbi.nlm.nih.gov/pubmed/33628537
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2020/7353452
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