Ontology highlight
ABSTRACT:
SUBMITTER: Bogershausen N
PROVIDER: S-EPMC4588287 | biostudies-literature | 2015 Sep
REPOSITORIES: biostudies-literature
Bögershausen Nina N Tsai I-Chun IC Pohl Esther E Kiper Pelin Özlem Simsek PÖ Beleggia Filippo F Percin E Ferda EF Keupp Katharina K Matchan Angela A Milz Esther E Alanay Yasemin Y Kayserili Hülya H Liu Yicheng Y Banka Siddharth S Kranz Andrea A Zenker Martin M Wieczorek Dagmar D Elcioglu Nursel N Prontera Paolo P Lyonnet Stanislas S Meitinger Thomas T Stewart A Francis AF Donnai Dian D Strom Tim M TM Boduroglu Koray K Yigit Gökhan G Li Yun Y Katsanis Nicholas N Wollnik Bernd B
The Journal of clinical investigation 20150817 9
The genetic disorder Kabuki syndrome (KS) is characterized by developmental delay and congenital anomalies. Dominant mutations in the chromatin regulators lysine (K)-specific methyltransferase 2D (KMT2D) (also known as MLL2) and lysine (K)-specific demethylase 6A (KDM6A) underlie the majority of cases. Although the functions of these chromatin-modifying proteins have been studied extensively, the physiological systems regulated by them are largely unknown. Using whole-exome sequencing, we identi ...[more]