"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

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Published in:American journal of medical genetics. Part A 2013-10, Vol.161A (10), p.2685-2685
Main Authors: Narumi, Yoko, Min, Byung-Joo, Shimizu, Kenji, Kazukawa, Itsuro, Sameshima, Kiyoko, Nakamura, Koichi, Kosho, Tomoki, Rhee, Yumie, Chung, Yoon-Sok, Kim, Ok-Hwa, Fukushima, Yoshimitsu, Park, Woong-Yang, Nishimura, Gen
Format: Article
Language:English
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ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.36113