What caused an infant with intrauterine growth restriction who was born at 31 weeks' gestation to present with mild erythema overlaid with a dry, parchment-like coating? On examination, clinicians ...

Here, we present a new example of reverse phenotyping that made it possible to identify homozygous variants in SASH1 as the likely cause of a new genodermatosis overlapping with DSH. The proband’s ...