A delayed diagnosis of Pallister-Hall syndrome in an adult male following the incidental detection of a hypothalamic hamartoma

Pallister-Hall syndrome is a rare autosomal dominant condition that is associated with polydactyly and hypothalamic hamartoma and is caused predominantly by frameshift or nonsense pathogenic variants in the GLI3 gene. The majority of cases are identified during childhood; however, rare reports of di...

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Detalles Bibliográficos
Autores principales: Courtney, Eliza, Swee, Du Soon, Ishak, Diana, Ngeow, Joanne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6232149/
https://www.ncbi.nlm.nih.gov/pubmed/30455963
http://dx.doi.org/10.1038/s41439-018-0031-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6232149/
https://www.ncbi.nlm.nih.gov/pubmed/30455963
http://dx.doi.org/10.1038/s41439-018-0031-9

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