ZTTK syndrome
| ZTTK syndrome |
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ZTTK Syndrome (Zhu-Tokita-Takenouchi-Kim syndrome) is a rare disease caused in humans by a genetic mutation of the SON gene. It has a range of symptoms, most notably moderate to severe intellectual disability and developmental delay.[1][2]
References
- ↑ Kim, Jung-Hyun; Shinde, Deepali N; Reijnders, Margot R.F; Hauser, Natalie S; Belmonte, Rebecca L; Wilson, Gregory R; Bosch, Daniëlle G.M; Bubulya, Paula A; Shashi, Vandana; Petrovski, Slavé; Stone, Joshua K; Park, Eun Young; Veltman, Joris A; Sinnema, Margje; Stumpel, Connie T.R.M; Draaisma, Jos M; Nicolai, Joost; Yntema, Helger G; Lindstrom, Kristin; De Vries, Bert B.A; Jewett, Tamison; Santoro, Stephanie L; Vogt, Julie; Bachman, Kristine K; Seeley, Andrea H; Krokosky, Alyson; Turner, Clesson; Rohena, Luis; Hempel, Maja; et al. (2016). "De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome". The American Journal of Human Genetics. 99 (3): 711–719. doi:10.1016/j.ajhg.2016.06.029. PMC 5011044. PMID 27545680.
- ↑ "OMIM Entry # 617140 - ZTTK SYNDROME; ZTTKS". Online Mendelian Inheritance in Man. Johns Hopkins University. Retrieved 27 October 2017.
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