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Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex

机译：涉及BHLHA9的日本创始人重复/重复与有或没有长骨缺乏症和Gollop-Wolfgang复合体的手/脚畸形相关

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Eiko Nagata; Hiroki Kano; Fumiko Kato; Rie Yamaguchi; Shinichi Nakashima; Shinichiro Takayama; Rika Kosaki; Hidefumi Tonoki; Seiji Mizuno; Satoshi Watanabe; Koh-ichiro Yoshiura; Tomoki Kosho; Tomonobu Hasegawa; Mamori Kimizuka; Atsushi Suzuki; Kenji Shimizu; Hirofumi Ohashi; Nobuhiko Haga; Hironao Numabe; Emiko Horii; Toshiro Nagai; Hiroshi Yoshihashi; Gen Nishimura; Tatsushi Toda; Shuji Takada; Shigetoshi Yokoyama; Hiroshi Asahara; Shinichiro Sano; Maki Fukami; Shiro Ikegawa; Tsutomu Ogata;
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1. Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex [J] . Eiko Nagata, Hiroki Kano, Fumiko Kato, Orphanet journal of rare diseases . 2014,第S1期

机译：涉及BHLHA9的日本创始人重复/重复与手部或脚部畸形伴有或不伴有长骨缺乏症和Gollop-Wolfgang复合体有关
2. Femoral-Tibial-Digital Malformations in a Boy with the Japanese Founder Triplication of BHLHA9 [J] . Nagata Eiko, Haga Nobuhiko, Fujisawa Yasuko, American journal of medical genetics, Part A . 2015,第12期

机译：日本创始人BHLHA9重复出现的男孩股骨胫骨数字畸形
3. Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature [J] . Chamara Sampath Paththinige, Nirmala Dushyanthi Sirisena, Fabienne Escande, BMC Medical Genetics . 2019,第1期

机译：BHLHA9基因重复相关的手足畸形伴长骨缺乏症的病例报告和文献复习
4. Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex [O] . Eiko Nagata, Hiroki Kano, Fumiko Kato, 2014

机译：涉及BHLHA9的日本创始人重复/重复与有或没有长骨缺乏症和Gollop-Wolfgang复合体的手/脚畸形相关
5. Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1 [O] . Naveed, Mohammed, Nath, S. K., Gaines, Mathew, 2007

机译：全基因组连锁扫描在一个大型阿拉伯家庭中发现长臂缺损的手/脚畸形，在染色体1q42.2-q43和6q14.1上发现了两个新的易感基因座

Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex

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