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SHORT syndrome in two Chinese girls: A case report and review of the literature

BACKGROUND: SHORT syndrome is a rare inherited multisystem disease that includes characteristic facial features, growth retardation, and metabolic anomalies and is related to heterozygous mutations in the PIK3R1 gene. However, it is difficult to ascertain the relationship between the phenotype and t...

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Detalles Bibliográficos
Autores principales:	Zhang, Yanhong, Ji, Baolan, Li, Jinsheng, Li, Yanying, Zhang, Mei, Ban, Bo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2020
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7507522/ https://www.ncbi.nlm.nih.gov/pubmed/32602265 http://dx.doi.org/10.1002/mgg3.1385

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