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

This report underscores the importance of DBS WES in identifying the genes and mutations causing devastating rare diseases. Obtaining critical samples from a dying patient is crucial for enabling genetic diagnosis.
PMID: 32827718 [PubMed - as supplied by publisher]

Source: European Journal of Medical Genetics - August 18, 2020 Category: Genetics & Stem Cells Authors: Fedida A, Ben Harouch S, Kalfon L, Abunassar Z, Omari H, Mandel H, Falik-Zaccai TC Tags: Eur J Med Genet Source Type: research