Novel GPC3 Gene Mutation in Simpson-Golabi-Behmel Syndrome with Endocrine Anomalies: A Case Report

Simpson-Golabi-Behmel syndrome (SGBS) represents a rare X-linked recessive syndrome with prenatal and postnatal overgrowth, coarse facial features, congenital malformations, organomegaly and an increased risk of tumors. Mutations on the GPC3 gene, encoding the glypican-3 protein, have previously bee...

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Detalles Bibliográficos
Autores principales: Bu, W, Zhu, M, Li, S, Liu, H, Liu, X
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sciendo 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9524176/
https://www.ncbi.nlm.nih.gov/pubmed/36249515
http://dx.doi.org/10.2478/bjmg-2021-0024

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9524176/
https://www.ncbi.nlm.nih.gov/pubmed/36249515
http://dx.doi.org/10.2478/bjmg-2021-0024

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