SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss - Buchert, Rebecca; Nesbitt, Addie I.; Tawamie, Hasan; Krantz, Ian D.; Medne, Livija; Helbig, Ingo; Matalon, Dena R.; Reis, Andre; Santani, Avni; Sticht, Heinrich; Jamra, Rami Abou (Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 2016)
Aus: Orphanet Journal of Rare Diseases 11 (2016). <http://ojrd.biomedcentral.com/articles/10.1186/s13023-016-0509-9>