50 years of Robinow syndrome

Juliana F Mazzeu^{1

2}, Han G Brunner^{3

4}

Affiliations

¹ Faculdade de Medicina, Universidade de Brasília, Brasília, Brazil.
² Robinow Syndrome Foundation, Andover, Minnesota, USA.
³ Department of Human Genetics, Radboud Institute for Cognitive Neuroscience DCN, Radboud University Medical Center, Nijmegen, The Netherlands.
⁴ Department of Clinical Genetics, GROW School of Developmental Biology and Cancer, and MHEnS School for Neuroscience, Maastricht University Medical Centre, Maastricht, The Netherlands.

Editorial

Juliana F Mazzeu et al. Am J Med Genet A. 2020 Sep.

. 2020 Sep;182(9):2005-2007.

doi: 10.1002/ajmg.a.61756. Epub 2020 Jul 21.

Juliana F Mazzeu^{1

2}, Han G Brunner^{3

4}

¹ Faculdade de Medicina, Universidade de Brasília, Brasília, Brazil.
² Robinow Syndrome Foundation, Andover, Minnesota, USA.
³ Department of Human Genetics, Radboud Institute for Cognitive Neuroscience DCN, Radboud University Medical Center, Nijmegen, The Netherlands.
⁴ Department of Clinical Genetics, GROW School of Developmental Biology and Cancer, and MHEnS School for Neuroscience, Maastricht University Medical Centre, Maastricht, The Netherlands.

No abstract available

References

1. Abu-Ghname, A., Trost, J., Davis, M. J., Sutton, V. R., … Maricevich, R. (2020). Extremity anomalies associated with robinow syndrome. American Journal of Medical Genetics Part A. Manuscript submitted for publication.
1. Afzal, A. R., Rajab, A., Fenske, C., Crosby, A., Lahiri, N., Ternes-Pereira, E., … Jeffery, S. (2000). Linkage of recessive Robinow syndrome to a 4 cM interval on chromosome 9q22. Human Genetics, 106(3), 351-354. https://doi.org/10.1007/s004390051049
1. Afzal, A. R., Rajab, A., Fenske, C. D., Oldridge, M., Elanko, N., Ternes-Pereira, E., … Jeffery, S. (2000). Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2. Nature Genetics, 25(4), 419-422. https://doi.org/10.1038/78107
1. Bain, M. D., Winter, R. M., & Burn, J. (1986). Robinow syndrome without mesomelic ‘brachymelia’: A report of five cases. Journal of Medical Genetics, 23(4), 350-354. https://doi.org/10.1136/jmg.23.4.350
1. Bunn, K. J., Daniel, P., Rosken, H. S., O'Neill, A. C., Cameron-Christie, S. R., Morgan, T., … Robertson, S. P. (2015). Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome. American Journal of Human Genetics, 96(4), 623-630. https://doi.org/10.1016/j.ajhg.2015.02.010