Preaxial polydactyly in an individual with Wiedemann-Steiner syndrome caused by a novel nonsense mutation in KMT2A (vol 173, 2821, 2017)

被引:0
作者
Enokizono, Takashi [1 ]
Ohto, Tatsuyuki [2 ]
Tanaka, Ryuta [2 ]
Tanaka, Mai [1 ]
Suzuki, Hisato [1 ]
Sakai, Aiko [1 ]
Imagawa, Kazuo [1 ]
Fukushima, Hiroko [2 ]
Iwabuti, Atsushi [2 ]
Fukushima, Takashi [2 ]
Sumazaki, Ryo [2 ]
Uehara, Tomoko [3 ]
Takenouchi, Toshiki [3 ]
Kosaki, Kenjiro [3 ]
机构
[1] Univ Tsukuba Hosp, Dept Pediat, 2-1-1 Amakubo, Tsukuba, Ibaraki 3058576, Japan
[2] Univ Tsukuba, Fac Med, Dept Child Hlth, Ibaraki, Japan
[3] Keio Univ, Ctr Med Genet, Sch Med, Tokyo, Japan
关键词
D O I
10.1002/ajmg.a.61831
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:2805 / 2805
页数:1
相关论文
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[1]   Preaxial polydactyly in an individual with Wiedemann-Steiner syndrome caused by a novel nonsense mutation in KMT2A [J].
Enokizono, Takashi ;
Ohto, Tatsuyuki ;
Tanaka, Ryuta ;
Tanaka, Mai ;
Suzuki, Hisato ;
Sakai, Aiko ;
Imagawa, Kazuo ;
Fukushima, Hiroko ;
Iwabuti, Atsushi ;
Fukushima, Takashi ;
Sumazaki, Ryo ;
Uehara, Tomoko ;
Takenouchi, Toshiki ;
Kosaki, Kenjiro .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2017, 173 (10) :2821-2825