Clinical findings in patients with RAP 1 A / RAP 1 B mutations Symptom Frequency in KSA RAP 1 A patient RAP 1

@inproceedings{Bgershausen2015ClinicalFI,
  title={Clinical findings in patients with RAP 1 A / RAP 1 B mutations Symptom Frequency in KSA RAP 1 A patient RAP 1},
  author={Nina B{\"o}gershausen and I Chang Tsai and Esther Pohl and Pelin {\"O}zlem Simsek Kiper and Filippo Beleggia and Emriye Ferda Perçin and Katharina Keupp and Angela Matchan and Esther Milz and Yasemin Alanay and H{\"u}lya Kayserili and Yicheng Liu and Siddharth Banka and Andrea Kranz and Martin Zenker and Dagmar Wieczorek and Nursel E Elçioglu and Paolo Prontera and Stanislas Lyonnet and Thomas Meitinger and Andrew Francis Stewart and Dian Donnai and Tim Matthias Strom and Koray Boduroğlu and Goekhan Yigit and Yun Li and Nicholas Katsanis and Bernd Wollnik},
  year={2015}
}
3 5 8 5 jci.org Volume 125 Number 9 September 2015 Introduction De novo dominant germline mutations in lysine (K)–specific methyltransferase 2D (KMT2D; formerly MLL2, ALR; ref. 1) or lysine (K)–specific demethylase 6A (KDM6A) cause Kabuki syndrome (KS; MIM 147920 and 300867; refs. 2–4), a developmental disorder characterized by a recognizable facial gestalt… CONTINUE READING