Identification of De Novo Radio-Tartaglia Syndrome and Comparison of Clinical and Molecular Characteristics with Those of 1p36 Deletion Syndrome

Purpose Radio-Tartaglia syndrome (RTS; Mendelian Inheritance in Man [MIM]: 619312) is a rare neurodevelopmental disorder with few reported cases and limited research. It has recently been reported that the clinical features of RTS overlap with those of 1p36 deletion syndrome (1p36DS), a common chrom...

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Main Authors: Hyun-Young Kim, Jeehun Lee, Ja-Hyun Jang, Jong-Won Kim, Jiwon Lee, Mi-Ae Jang
Format: Article
Language:English
Published: Korean Child Neurology Society 2025-01-01
Series:Annals of Child Neurology
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Online Access:http://annchildneurol.org/upload/pdf/acn-2024-00717.pdf
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