Please use this identifier to cite or link to this item: https://hdl.handle.net/10356/142078
Title: A delayed diagnosis of Pallister-Hall syndrome in an adult male following the incidental detection of a hypothalamic hamartoma
Authors: Courtney, Eliza
Swee, Du Soon
Ishak, Diana
Ngeow, Joanne
Keywords: Science::Medicine
Issue Date: 2018
Source: 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
Journal: Human Genome Variation
Abstract: 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.
URI: https://hdl.handle.net/10356/142078
ISSN: 2054-345X
DOI: 10.1038/s41439-018-0031-9
Rights: © 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/.
Fulltext Permission: open
Fulltext Availability: With Fulltext
Appears in Collections:LKCMedicine Journal Articles

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