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

Stevenson RE, Vincent V, Spellicy CJ, Friez MJ, Chaubey A. Biallelic deletions of the Waardenburg II syndrome gene, SOX10, cause a recognizable arthrogryposis syndrome. Am J Med Genet A. 2018 Aug 16. doi: 10.1002/ajmg.a.40362. [Epub ahead of print].

PubMed ID: 
30113773