Mutations in SEC24D cause autosomal recessive osteogenesis imperfecta

Clin Genet. 2016 Apr;89(4):517-519. doi: 10.1111/cge.12678. Epub 2015 Oct 14.

S Moosa^{1

2

3

4}, B H-Y Chung⁵, J Y-L Tung⁵, J Altmüller^{1

6}, H Thiele⁶, P Nürnberg^{3

4

6}, C Netzer¹, G Nishimura⁷, B Wollnik^{1

2

3

4}

¹ Institute of Human Genetics, University of Cologne, Cologne, Germany.
² Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
³ Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany.
⁴ Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany.
⁵ Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Hong Kong, China.
⁶ Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.
⁷ Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.

No abstract available

Publication types