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Yoko Narumi, Byung-Joo Min, Kenji Shimizu, Itsuro Kazukawa, Kiyoko Sameshima, Koichi Nakamura, Tomoki Kosho, Yumie Rhee, Yoon-Sok Chung, Ok-Hwa Kim, Yoshimitsu Fukushima, Woong-Yang Park and Gen Nishimura “Clinical consequences in truncating mutations in exon 34 of NOTCH2: report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome” Am J Med Genet. 161:518–526, 2013 American Journal of Medical Genetics Part A 161

Version of Record online: 17 SEP 2013 | DOI: 10.1002/ajmg.a.36113

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