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Published in 2022 at "Human Molecular Genetics"
DOI: 10.1093/hmg/ddac167
Abstract: Abstract KBG syndrome (KBGS) is characterized by distinctive facial gestalt, short stature and variable clinical findings. With ageing, some features become more recognizable, allowing a differential diagnosis. We aimed to better characterize natural history of…
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Keywords:
natural history;
kbg syndrome;
short stature;
history kbg ... See more keywords