"The family reported to have X-linked Diggve-Melchior-Clausen syndrome instead have X-linked SEDT caused by a novel TRAPPC2 frameshift variant."
Juan José YunisLuz K YunisPublished in: Clinical genetics (2023)
The family reported to have X-linked Diggve-Melchior-Clausen syndrome instead have X-linked SEDT caused by a novel TRAPPC2 frameshift variant.
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