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

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 syndrome 1 gen...

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Detalles Bibliográficos
Autores principales: Schierz, Ingrid Anne Mandy, Giuffrè, Mario, Cimador, Marcello, D’Alessandro, Maria Michela, Serra, Gregorio, Favata, Federico, Antona, Vincenzo, Piro, Ettore, Corsello, Giovanni
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8812169/
https://www.ncbi.nlm.nih.gov/pubmed/35115028
http://dx.doi.org/10.1186/s13052-022-01218-5

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