Waardenburg Syndrome Type IV De Novo SOX10 Variant Causing Chronic Intestinal Pseudo-Obstruction

Waardenburg syndrome (WS) type IV is characterized by pigmentary abnormalities, deafness and Hirschsprung's disease. This syndrome can be triggered by dysregulation of the SOX10 gene, which belongs to the SOX (SRY-related high-mobility group-box) family of genes. We discuss the first known case...

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Detalles Bibliográficos
Autores principales: Hogan, Anthony R., Rao, Krishnamurti A., Thorson, Willa L., Neville, Holly L., Sola, Juan E., Perez, Eduardo A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6751108/
https://www.ncbi.nlm.nih.gov/pubmed/31555574
http://dx.doi.org/10.5223/pghn.2019.22.5.487

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6751108/
https://www.ncbi.nlm.nih.gov/pubmed/31555574
http://dx.doi.org/10.5223/pghn.2019.22.5.487

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