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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作者：
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
机构：
[1] Hamamatsu University School of Medicine,Department of Pediatrics
[2] Center for Integrative Medical Sciences,Laboratory of Bone and Joint Diseases
[3] RIKEN,Division of Medical Genetics
[4] Department of Orthopedic Surgery,Section of Clinical Genetics, Department of Pediatrics
[5] National Center for Child Health and Development,Department of Pediatrics
[6] Tenshi Hospital,Department of Human Genetics
[7] Central Hospital,Department of Medical Genetics
[8] Aichi Human Service Center,Department of Pediatrics
[9] Nagasaki University Graduate School of Biomedical Sciences,Department of Orthopedics
[10] Shinshu University School of Medicine,Division of Medical Genetics
[11] Keio University School of Medicine,Department of Rehabilitation Medicine
[12] National Rehabilitation Center for Disabled Children,Department of Genetic Counseling
[13] Saitama Children's Medical Center,Department of Orthopedic Surgery
[14] University of Tokyo,Department of Pediatrics
[15] Graduate School of Humanities and Sciences,Department of Pediatric Imaging
[16] Ochanomizu University,Division of Neurology/Molecular Brain Science
[17] Japanese Red Cross Nagoya Daiichi Hospital,Department of Systems Biomedicine
[18] Dokkyo Medical University Koshigaya Hospital,Department of Systems Biomedicine
[19] Division of Medical Genetics,Department of Molecular Endocrinology
[20] Tokyo Metropolitan Children's Medical Center,Present address: Laboratory of Metabolism Center for Cancer Research
[21] Kobe University Graduate School of Medicine,undefined
[22] National Research Institute for Child Health and Development,undefined
[23] Graduate School of Medical and Dental Sciences,undefined
[24] Tokyo Medical and Dental University,undefined
[25] National Research Institute for Child Health and Development,undefined
[26] National Cancer Institute,undefined
来源：
Orphanet Journal of Rare Diseases | / 9卷
关键词：
BHLHA9; Split-hand/foot malformation; Long bone deficiency; Gollop-Wolfgang complex; Expressivity; Penetrance; Susceptibility; Japanese founder copy number gain;
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