jmg.bmj3 天
Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder ...
2 National Institute for Health Research Biomedical Research Centre, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK ...
SciELO6 天
Kabuki and CHARGE syndromes: overlapping symptoms and diagnostic challenges
Kabuki syndrome is a rare congenital malformation with typical facial features, skeletal anomalies, delayed neuropsychomotor development and growth, and cardiac, genitourinary, gastrointestinal, ...