Sedaghatian-type spondylometaphyseal dysplasia: Whole exome sequencing in neonatal dry blood spots enabled identification of a novel variant in GPX4

Sedaghatian-type spondylometaphyseal dysplasia: Whole exome sequencing in neonatal dry blood spots enabled identification of a novel variant in GPX4


Eur J Med Genet. 2020 Nov;63(11):104020. doi: 10.1016/j.ejmg.2020.104020. Epub 2020 Aug 20.

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