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A de novo pathogenic variant in neuronal differentiation factor 2 in a Chinese patient with early infantile epileptic encephalopathy.

Clinical dysmorphology - 1 Jul 2024

Poon Jennifer Yuen Ying, Mok Myth Tsz Shun, Ho Stephanie Ka Lun, Cheng Shirley Sze Wing, Lo Ivan Fai Man, Luk Ho-Ming

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PMID: 38818821
DOI: 10.1097/MCD.0000000000000498

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