PAPSS2 mutations cause autosomal recessive brachyolmia

Noriko Miyake; Nursel H Elcioglu; Aritoshi Iida; Pinar Isguven; Jin Dai; Nobuyuki Murakami; Kazuyuki Takamura; Tae-Joon Cho; Ok-Hwa Kim; Tomonobu Hasegawa; Toshiro Nagai; Hirofumi Ohashi; Gen Nishimura; Naomichi Matsumoto; Shiro Ikegawa

doi:10.1136/jmedgenet-2012-101039

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New disease loci

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PAPSS2 mutations cause autosomal recessive brachyolmia

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Noriko Miyake 1Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan PubMed articles Google scholar articles
Nursel H Elcioglu 2Department of Pediatric Genetics, Marmara University Pendik Hospital, Istanbul, Turkey PubMed articles Google scholar articles
Aritoshi Iida 3Laboratory for Bone and Joint Diseases, Center for Genomic Medicine, RIKEN, Tokyo, Japan PubMed articles Google scholar articles
Pinar Isguven 4Department of Pediatrics and Pediatric Endocrinology, Medeniyet University Goztepe Hospital, Istanbul, Turkey PubMed articles Google scholar articles
Jin Dai 3Laboratory for Bone and Joint Diseases, Center for Genomic Medicine, RIKEN, Tokyo, Japan PubMed articles Google scholar articles
Nobuyuki Murakami 5Department of Pediatrics, Dokkyo Medical University Koshigaya Hospital, Koshigaya, Japan PubMed articles Google scholar articles
Kazuyuki Takamura 6Department of Orthopaedic Surgery, Fukuoka Children's Hospital, Fukuoka, Japan PubMed articles Google scholar articles
Tae-Joon Cho 7Division of Pediatric Orthopaedics, Seoul National University Children's Hospital, Seoul, Korea PubMed articles Google scholar articles
Ok-Hwa Kim 8Department of Radiology, Ajou University Hospital, Suwon, Korea PubMed articles Google scholar articles
Tomonobu Hasegawa 9Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan PubMed articles Google scholar articles
Toshiro Nagai 5Department of Pediatrics, Dokkyo Medical University Koshigaya Hospital, Koshigaya, Japan PubMed articles Google scholar articles
Hirofumi Ohashi 10Division of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan PubMed articles Google scholar articles
Gen Nishimura 11Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center, Futyu, Japan PubMed articles Google scholar articles
Naomichi Matsumoto 1Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan PubMed articles Google scholar articles
Shiro Ikegawa 3Laboratory for Bone and Joint Diseases, Center for Genomic Medicine, RIKEN, Tokyo, Japan PubMed articles Google scholar articles

Correspondence to Noriko Miyake, Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9, Fukuura, Kanazawa-ku, Yokohama 236-0004, Japan; nmiyake{at}yokohama-cu.ac.jp or Shiro Ikegawa, Laboratory of Bone and Joint Diseases, Center for Genomic Medicine, RIKEN 4-6-1 Shirokanedai, Minato-ku, Tokyo 108-8639, Japan; sikegawa{at}ims.u-tokyo.ac.jp

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Citation

Miyake N, Elcioglu NH, Iida A, et al

PAPSS2 mutations cause autosomal recessive brachyolmia

Journal of Medical Genetics 2012;49:533-538.

Online issue publication

April 27, 2016

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