Preaxial polydactyly in an individual with Wiedemann-Steiner syndrome caused by a novel nonsense mutation in KMT2A (vol 173A, pg 821, 2017)

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作者
Enokizono, T.
Ohto, T.
Tanaka, R.
Tanaka, M.
Suzuki, H.
Sakai, A.
Imagawa, K.
Fukushima, H.
Iwabuti, A.
Fukushima, T.
Sumazaki, R.
Uehara, T.
Takenouchi, T.
Kosaki, K.
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10.1002/ajmg.a.61774
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Q3 [遗传学];
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071007 ; 090102 ;
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页码:2195 / 2195
页数:1
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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