Hypertrophic pyloric stenosis masked by kidney failure in a male infant with a contiguous gene deletion syndrome at Xp22.31 involving the steroid sulfatase gene: case report
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DOI: 10.1186/s13052-022-01218-5
Abstract: Background Contiguous gene deletion syndrome at Xp22.3 resulting in nullisomy in males or Turner syndrome patients typically encompasses the steroid sulfatase gene ( STS ) and contiguously located other genes expanding the phenotype. In large… read more here.
Keywords: deletion syndrome; syndrome xp22; contiguous gene; gene ... See more keywords