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.

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Clinical dysmorphology - 1 Jul 2020

Khazanchi Rohan, Yetman Anji T, Sanmann Jennifer N, Starr Lois J

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