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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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
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author Courtney, Eliza
Swee, Du Soon
Ishak, Diana
Ngeow, Joanne
author_facet Courtney, Eliza
Swee, Du Soon
Ishak, Diana
Ngeow, Joanne
author_sort Courtney, Eliza
collection PubMed
description 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 diagnoses during adulthood exist. Here, we describe the identification of a novel nonsense GLI3 pathogenic variant in an adult male following the incidental detection of a hypothalamic hamartoma.
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spelling pubmed-62321492018-11-19 A delayed diagnosis of Pallister-Hall syndrome in an adult male following the incidental detection of a hypothalamic hamartoma Courtney, Eliza Swee, Du Soon Ishak, Diana Ngeow, Joanne Hum Genome Var Data Report 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 diagnoses during adulthood exist. Here, we describe the identification of a novel nonsense GLI3 pathogenic variant in an adult male following the incidental detection of a hypothalamic hamartoma. Nature Publishing Group UK 2018-11-12 /pmc/articles/PMC6232149/ /pubmed/30455963 http://dx.doi.org/10.1038/s41439-018-0031-9 Text en © The Author(s) 2018 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Data Report
Courtney, Eliza
Swee, Du Soon
Ishak, Diana
Ngeow, Joanne
A delayed diagnosis of Pallister-Hall syndrome in an adult male following the incidental detection of a hypothalamic hamartoma
title A delayed diagnosis of Pallister-Hall syndrome in an adult male following the incidental detection of a hypothalamic hamartoma
title_full A delayed diagnosis of Pallister-Hall syndrome in an adult male following the incidental detection of a hypothalamic hamartoma
title_fullStr A delayed diagnosis of Pallister-Hall syndrome in an adult male following the incidental detection of a hypothalamic hamartoma
title_full_unstemmed A delayed diagnosis of Pallister-Hall syndrome in an adult male following the incidental detection of a hypothalamic hamartoma
title_short A delayed diagnosis of Pallister-Hall syndrome in an adult male following the incidental detection of a hypothalamic hamartoma
title_sort delayed diagnosis of pallister-hall syndrome in an adult male following the incidental detection of a hypothalamic hamartoma
topic Data Report
url 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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