Article
Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome.
European journal of human genetics : EJHG - 1 Sept 2021
Dingemans Alexander J M, Stremmelaar Diante E, van der Donk Roos, Vissers Lisenka E L M, Koolen David A, Rump Patrick, Hehir-Kwa Jayne Y, de Vries Bert B A
Abstract excerpt
The Koolen-de Vries syndrome (KdVS) is a multisystem syndrome with variable facial features caused by a 17q21.31 microdeletion or KANSL1 truncating variant. As the facial gestalt of KdVS has resemblance with the gestalt of the 22q11.2 deletion syndrome (22q11.2DS), we assessed whether our previously described hybrid quantitative facial phenotyping algorithm could distinguish between these two syndromes, and...
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