Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects-Reference-Cited by-同舟云学术

Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects

Published:2016-12-15 Issue:4 Volume:62 Page:497-501
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Haliloglu Goknur,Becker Kerstin,Temucin Cagri,Talim Beril,Küçükşahin Nalan,Pergande Matthias,Motameny Susanne,Nürnberg Peter,Aydingoz Ustun,Topaloglu Haluk,Cirak Sebahattin

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/jhg2016153.pdf

Reference20 articles.

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3. Swinyard, C. A. Concepts of multiple congenital contractures (arthrogryposis) in man and animals. Teratology 25, 247–258 (1982).

4. Hall, J. G. Arthrogryposis (multiple congenital contractures): diagnostic approach to etiology, classification, genetics, and general principles. Eur. J. Med. Genet. 57, 464–472 (2014).

5. Fazeli, W., Karakaya, M., Herkenrath, P., Vierzig, A., Dotsch, J., von Kleist-Retzow, J. C. et al. Mendeliome sequencing enables differential diagnosis and treatment of neonatal lactic acidosis. Mol. Cell. Pediatr. 3, 22 (2016).

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