Maternal Xp22.31 copy-number variations detected in non-invasive prenatal screening effectively guide the prenatal diagnosis of X-linked ichthyosis
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DOI: 10.3389/fgene.2022.934952
Abstract: Background and aims: X-linked ichthyosis (XLI) is a common recessive genetic disease caused by the deletion of steroid sulfatase (STS) in Xp22.31. Maternal copy-number deletions in Xp22.31 (covering STS) can be considered an incidental benefit… read more here.
Keywords: linked ichthyosis; non invasive; copy number; deletions xp22 ... See more keywords