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. (Q53341445)
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scientific article published on 7 February 2013
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | 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. |
scientific article published on 7 February 2013 |
Statements
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 (English)
Yoko Narumi
Byung-Joo Min
Kenji Shimizu
Itsuro Kazukawa
Koichi Nakamura
Tomoki Kosho
Ok-Hwa Kim
Yoshimitsu Fukushima
Woong-Yang Park
Gen Nishimura
7 February 2013
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