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

• Main Authors: Ingrid Anne Mandy Schierz (Author), Mario Giuffrè (Author), Marcello Cimador (Author), Maria Michela D'Alessandro (Author), Gregorio Serra (Author), Federico Favata (Author), Vincenzo Antona (Author), Ettore Piro (Author), Giovanni Corsello (Author)
• Format: Book
• Published: BMC, 2022-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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 deletions, that encompass also the Kallmann syndro...