Nine newly identified individuals refine the phenotype associated with MYT1L mutations.
Windheuser IC, Becker J, Cremer K, Hundertmark H, Yates LM, Mangold E, Peters S, Degenhardt F, Ludwig KU, Zink AM, Lessel D, Bierhals T, Herget T, Johannsen J, Denecke J, Wohlleber E, Strom TM, Wieczorek D, Bertoli M, Colombo R, Hempel M, Engels H, Am J Med Genet A. (2020), 182(5):1021-1031. doi: 10.1002/ajmg.a.61515:.
The clinical presentation caused by truncating CHD8 variants..
Douzgou S, Liang HW, Metcalfe K, Somarathi S, Tischkowitz M, Mohamed W, Kini U, McKee S, Yates L, Bertoli M, Lynch SA, Holder S; Deciphering Developmental Disorders Study, Banka S, Clin Genet. (2019), 96(1):72-84. doi: 10.1111/cge.13554:.
The South African COVID-19 Pregnancy Outcomes Study - KRISP News - 2020-05-29
SATuRN at the 43rd Union World Conference on Lung Health - TB Union - 2012-11-20
KRISP has been created by the coordinated effort of the University of KwaZulu-Natal (UKZN), the Technology Innovation Agency (TIA) and the South African Medical Research Countil (SAMRC).
Location: K-RITH Tower Building
Nelson R Mandela School of Medicine, UKZN
719 Umbilo Road, Durban, South Africa.
Director: Prof. Tulio de Oliveira