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Short Case Reports

First report of de novo 12q14.2-q23.3 duplication: patient with multiple congenital anomalies, neurodevelopmental delay, and a connective tissue disorder-like phenotype including cutis laxa

Khazanchi, Rohana; Yetman, Anji T.b; Sanmann, Jennifer N.c; Starr, Lois J.c

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doi: 10.1097/MCD.0000000000000320
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