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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.

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Description scientific article published on 7 February 2013
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author: Yoon-Sok Chung  Yumie Rhee  Kiyoko Sameshima 

Publication date February 7, 2013
Language English
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