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Dilated Aorta in CNOT3 -Related Neurodevelopmental Disorder: 'expanding' the Phenotype.

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

Clinical Dysmorphology（2024）

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关键词
CNOT3,copy number variants,intellectual disability,long read sequencing
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