Literature DB >> 26333411

Femoral-tibial-digital malformations in a boy with the Japanese founder triplication of BHLHA9.

Eiko Nagata1, Nobuhiko Haga2, Yasuko Fujisawa1, Maki Fukami3, Gen Nishimura4, Tsutomu Ogata.   

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Year:  2015        PMID： 26333411     DOI： 10.1002/ajmg.a.37290

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  4 in total

1.  A New Split Hand/Foot Malformation with Long Bone Deficiency Familial Case.

Authors:  Carmela Fusco; Pasquelena De Nittis; Ali Abdullah Alfaiz; Maria Teresa Pellico; Bartolomeo Augello; Natascia Malerba; Leopoldo Zelante; Alexandre Reymond; Giuseppe Merla
Journal:  J Pediatr Genet       Date:  2016-08-31

2.  Bhlha9 regulates apical ectodermal ridge formation during limb development.

Authors:  Kensuke Kataoka; Takahide Matsushima; Yoshiaki Ito; Tempei Sato; Shigetoshi Yokoyama; Hiroshi Asahara
Journal:  J Bone Miner Metab       Date:  2017-03-21       Impact factor: 2.626

3.  Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2).

Authors:  Kaori Yamoto; Hirotomo Saitsu; Gen Nishimura; Rika Kosaki; Shinichiro Takayama; Nobuhiko Haga; Hidefumi Tonoki; Akihisa Okumura; Emiko Horii; Nobuhiko Okamoto; Hiroshi Suzumura; Shiro Ikegawa; Fumiko Kato; Yasuko Fujisawa; Eiko Nagata; Shuji Takada; Maki Fukami; Tsutomu Ogata
Journal:  Eur J Hum Genet       Date:  2019-07-22       Impact factor: 4.246

Review 4.  Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature.

Authors:  Chamara Sampath Paththinige; Nirmala Dushyanthi Sirisena; Fabienne Escande; Sylvie Manouvrier; Florence Petit; Vajira Harshadeva Weerabaddana Dissanayake
Journal:  BMC Med Genet       Date:  2019-06-14       Impact factor: 2.103
  4 in total

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