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A further case of hypotonia, ataxia, developmental delay and tooth enamel defect syndrome due to a recurrent C-terminal binding protein 1 mutation.

Clinical dysmorphology - 1 Jul 2020

Bhatia Sameer Kumar, Arora Veronica, Verma Ishwar Chander

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PMID: 32167997
DOI: 10.1097/MCD.0000000000000321

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