Pallister-Hall Syndrome Presenting in Adolescence

Pallister-Hall syndrome (PHS) is an extremely rare syndrome of unknown prevalence with autosomal dominant inheritance due to GLI3 gene mutations classically characterized by the presence of a hypothalamic hamartoma and polydactyly. Additional diagnostic criteria include bifid epiglottis, imperforate...

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Detalles Bibliográficos
Autores principales: Mahtabfar, Aria, Buckley, Niall, Murphy, Susan, Danish, Shabbar, Marshall, Ian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6442444/
https://www.ncbi.nlm.nih.gov/pubmed/31011455
http://dx.doi.org/10.1155/2019/6845836

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6442444/
https://www.ncbi.nlm.nih.gov/pubmed/31011455
http://dx.doi.org/10.1155/2019/6845836

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