A novel sequence variant in SFRP4 causing Pyle disease
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://www.nature.com/articles/jhg2016166.pdf
Reference4 articles.
1. Simsek Kiper, P. O., Saito, H., Gori, F., Unger, S., Hesse, E., Yamana, K. et al. Cortical-bone fragility—insights from sFRP4 deficiency in Pyle’s disease. N. Engl. J. Med. 374, 2553–2562 (2016).
2. Wonkam, A., Makubalo, N., Roberts, T. & Chetty, M. Pyle metaphyseal dysplasia in an African child: case report and review of the literature. S. Afr. Med. J. 106, S110–S113 (2016).
3. Schumann, H., Holtz, J., Zerkowski, H. R. & Hatzfeld, M. Expression of secreted frizzled related proteins 3 and 4 in human ventricular myocardium correlates with apoptosis related gene expression. Cardiovasc. Res. 45, 720–728 (2000).
4. Raad, M. S. & Beighton, P. Autosomal recessive inheritance of metaphyseal dysplasia (Pyle disease). Clin. Genet. 14, 251–256 (1978).
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