Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction.

@article{Parenti2016ExpandingTC,
  title={Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction.},
  author={Ilaria Parenti and Cristina Giovanna Gervasini and Jelena Pozojevic and Kerstin S Wendt and Erwan Watrin and Jacopo Azzollini and Diana Braunholz and Karin Buiting and Anna Cereda and Hartmut Engels and Livia Garavelli and Renata Glazar and Barbara Graffmann and L Larizza and H J L{\"u}decke and Milena Mariani and Maura Masciadri and Juan Pi{\'e} and F. J. Hidalgo Ramos and Silvia Russo and Angelo Selicorni and Margarita Stefanova and Tim Matthias Strom and Ralf Werner and Jolanta Wierzba and Giuseppe Zampino and G Gillessen-kaesbach and Dagmar Wieczorek and Frank J. Kaiser},
  journal={Clinical genetics},
  year={2016},
  volume={89 5},
  pages={564-73}
}
Cornelia de Lange syndrome (CdLS) is a clinically heterogeneous disorder characterized by typical facial dysmorphism, cognitive impairment and multiple congenital anomalies. Approximately 75% of patients carry a variant in one of the five cohesin-related genes NIPBL, SMC1A, SMC3, RAD21 and HDAC8. Herein we report on the clinical and molecular characterization of 11 patients carrying 10 distinct variants in HDAC8. Given the high number of variants identified so far, we advise sequencing of HDAC8… CONTINUE READING
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