Clinical genetics
FAM20B Related Skeletal Dysplasia: Expanding the Prenatal Phenotype.
Arda Arduç, Linda C Zuurbier, Merel C van Maarle, Peter Lauffer, Jonathan I M L Verbeke, Caroline J Bax, Minke van Tuyl, Ron Hochstenbach, Eva Pajkrt
Published: 202510.1111/cge.70115
Abstract
FAM20B encodes glycosaminoglycan xylosylkinase, a key enzyme in proteoglycan biosynthesis. Biallelic pathogenic variants have only recently been linked to skeletal dysplasia. We report two pregnancies from one couple, resulting in three fetuses (twin…
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