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Xq26.3-q27.1 duplication including SOX3 gene in a Chinese boy with hypopituitarism: case report and two years treatment follow up

BACKGROUND: SOX3 is essential for pituitary development normally at the earliest stages of development. In humans, variants of SOX3 can cause X-linked hypopituitarism with various clinical manifestations, with or without mental retardation. CASE PRESENTATION: We present an 8-year-old Chinese patient...

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Detalles Bibliográficos
Autores principales:	Du, Caiqi, Wang, Feiya, Li, Zhuoguang, Zhang, Mini, Yu, Xiao, Liang, Yan, Luo, Xiaoping
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8811983/ https://www.ncbi.nlm.nih.gov/pubmed/35114986 http://dx.doi.org/10.1186/s12920-022-01167-2

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