Biallelic deletions of the Waardenburg II syndrome gene, SOX10, cause a recognizable arthrogryposis syndrome

Reference

Stevenson, Roger E., et al. “Biallelic Deletions of the Waardenburg II Syndrome Gene, SOX10, Cause a Recognizable Arthrogryposis Syndrome”. American Journal of Medical Genetics Part A, vol. 176, no. 9, July 2018, pp. 1968–1971, https://doi.org/10.1002/ajmg.a.40362.

PubMed Reference Number (PMID)

30113773