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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Bibliographic Details
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
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Online Access:https://hdl.handle.net/10356/142078
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Institution: Nanyang Technological University
Language: English

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