The family reported to have X‐linked <scp>Dyggve–Melchior–Clausen</scp> syndrome instead has X‐linked <scp>SEDT</scp> caused by a novel <scp>TRAPPC2</scp> frameshift variant

Londoño, Juan José Yunis; Yunis, Luz Karime

doi:10.1111/cge.14301

Clinical Genetics

2023

DOI: 10.1111/cge.14301

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The family reported to have X‐linked Dyggve–Melchior–Clausen syndrome instead has X‐linked SEDT caused by a novel TRAPPC2 frameshift variant

Juan José Yunis Londoño

Luz Karime Yunis

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The family reported to have X‐linked Dyggve–Melchior–Clausen syndrome instead has X‐linked SEDT caused by a novel TRAPPC2 frameshift variant

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