Clinical consequences in truncating mutations in exon 34 of <i>NOTCH2</i>: Report of six patients with Hajdu–Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome
Yoko Narumi(Shinshu University), Gen Nishimura(Musashino University), Ok‐Hwa Kim(Seoul National University Children's Hospital), Kenji Shimizu(Saitama Children's Medical Center), Yumie Rhee(Yonsei University), Itsuro Kazukawa(Chiba Hospital), Kiyoko Sameshima(Gunma Children's Medical Center), Yoshimitsu Fukushima(Saitama Children's Medical Center), Tomoki Kosho(Shinshu University), Kōichi Nakamura(University of Occupational and Environmental Health Japan), Woong‐Yang Park(Samsung Medical Center), Byung‐Joo Min(Seoul National University), Yoon‐Sok Chung(Ajou University)
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