Article
Pure 9p duplication syndrome with aplasia of the middle phalanges of the fifth fingers.
European journal of medical genetics - 1 Oct 2020
Sato Anna, Suzuki Toshifumi, Ikeno Mitsuru, Takeda Jun, Yamamoto Yuka, Shinohara Mitsuko, Makino Shintaro, Takeda Satoru, Shimizu Toshiaki, Itakura Atsuo
Abstract excerpt
9p duplication syndrome is a common congenital anomaly syndrome with specific facial features, mental and developmental retardations, and characteristic fingers. Pure 9p duplication without other chromosomal structural variations is very rare. It has recently been reported that cases with partial 9p duplication including SMARCA2 have phenotypes overlapping with Coffin-Siris syndrome (CSS). Herein, we present a...
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