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

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, Gen Nishimura

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