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Dilated aorta in CNOT3 -related neurodevelopmental disorder: 'expanding' the phenotype.

Clinical dysmorphology - 1 Oct 2024

Lau Sandra Hui Min, Jiin Ying Lim, Goh Chew Yin Jasmine, Choo Jonathan, Chow Cristelle, Ling Simon, Ng Yong Hong, Yi Hua Tan, Teo Jing Xian, Chua Khi Pin, Chin Minning, Lim Weng Khong, Jamuar Saumya Shekhar, Lai Angeline Hwei Meeng, Goh Jeannette Lay Kuan

Abstract excerpt

INTRODUCTION: Neurodevelopmental disorders (NDDs) comprise conditions that emerge during the child's development and contribute significantly to global health and economic burdens. De novo variants in CNOT3 have been linked to NDDs and understanding the genotype-phenotype relationship between CNOT3 and NDDs will aid in improving diagnosis and management. METHODS: In this study, we report a case of a patient with...

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PMID: 39140378
DOI: 10.1097/MCD.0000000000000495

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