Xq26.3-q27.1 duplication including SOX3 gene in a Chinese boy with hypopituitarism: case report and two years treatment follow up
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DOI: 10.1186/s12920-022-01167-2
Abstract: 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… read more here.
Keywords: duplication; treatment; including sox3; years treatment ... See more keywords