自发KDM6A剪切位点突变致歌舞伎综合征合并性早熟和矮小一例
赵亚玲, 李淑颖, 王曦, 聂敏, 伍学焱, 茅江峰
A case of Kabuki syndrome with precocious puberty and short stature due to novel KDM6A splice-site mutation
ZHAO Ya-ling, LI Shu-ying, WANG Xi, NIE Min, WU Xue-yan, MAO Jiang-feng
基础医学与临床
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2021, (1): 8
-12
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