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

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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Main Authors: Courtney, Eliza, Swee, Du Soon, Ishak, Diana, Ngeow, Joanne
Other Authors: Lee Kong Chian School of Medicine (LKCMedicine)
Format: Article
Language:English
Published: 2020
Subjects:
Science::Medicine
Development
Disease Genetics
Online Access:https://hdl.handle.net/10356/142078
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Institution: Nanyang Technological University
Language: English
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spelling sg-ntu-dr.10356-1420782020-11-01T05:24:08Z 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 Lee Kong Chian School of Medicine (LKCMedicine) Institute of Molecular and Cell Biology, A*STAR Science::Medicine Development Disease Genetics 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. NMRC (Natl Medical Research Council, S’pore) Published version 2020-06-15T08:26:27Z 2020-06-15T08:26:27Z 2018 Journal Article Courtney, E., Swee, D. S., Ishak, D., & Ngeow, J. (2018). A delayed diagnosis of Pallister-Hall syndrome in an adult male following the incidental detection of a hypothalamic hamartoma. Human Genome Variation, 5(1), 31-. doi:10.1038/s41439-018-0031-9 2054-345X https://hdl.handle.net/10356/142078 10.1038/s41439-018-0031-9 30455963 2-s2.0-85069297035 1 5 en Human Genome Variation © 2018 The Author(s). 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/. application/pdf
institution Nanyang Technological University
building NTU Library
continent Asia
country Singapore
Singapore
content_provider NTU Library
collection DR-NTU
language English
topic Science::Medicine
Development
Disease Genetics
spellingShingle Science::Medicine
Development
Disease Genetics
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
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.
author2 Lee Kong Chian School of Medicine (LKCMedicine)
author_facet Lee Kong Chian School of Medicine (LKCMedicine)
Courtney, Eliza
Swee, Du Soon
Ishak, Diana
Ngeow, Joanne
format Article
author Courtney, Eliza
Swee, Du Soon
Ishak, Diana
Ngeow, Joanne
author_sort Courtney, Eliza
title 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_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_sort delayed diagnosis of pallister-hall syndrome in an adult male following the incidental detection of a hypothalamic hamartoma
publishDate 2020
url https://hdl.handle.net/10356/142078
_version_ 1683494004271874048

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