17q12 Microdeletion Syndrome as a Rare Cause of Elevated Liver Enzymes: Case Report and Literature Review

17q12 deletion syndrome is a rare autosomal dominant inherited condition. It results from de novo mutation and can occur without a family history. Hepatocyte nuclear factor-1 beta (HNF1B) and LIM homeobox 1 (LXH1) genes are the most common genes to be deleted in this syndrome. It has unique clinical...

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Detalles Bibliográficos
Autores principales: Isa, Hasan M, Salman, Layla I, Almaa, Zainab A, Busehail, Mariam Y, Alherz, Zahra A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9812734/
https://www.ncbi.nlm.nih.gov/pubmed/36620780
http://dx.doi.org/10.7759/cureus.32233

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9812734/
https://www.ncbi.nlm.nih.gov/pubmed/36620780
http://dx.doi.org/10.7759/cureus.32233

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