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A unique phenotype in a patient with a rare triplication of the 22q11.2 region and new clinical insights of the 22q11.2 microduplication syndrome: A report of two cases

Chia sẻ: ViChengshin2711 ViChengshin2711 | Ngày: | Loại File: PDF | Số trang:6

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The rearrangements of the 22q11.2 chromosomal region, most frequently deletions and duplications, have been known to be responsible for multiple congenital anomaly disorders.

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Nội dung Text: A unique phenotype in a patient with a rare triplication of the 22q11.2 region and new clinical insights of the 22q11.2 microduplication syndrome: A report of two cases

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