A further case of hypotonia, ataxia, developmental delay and tooth enamel defect syndrome due to a recurrent C-terminal binding protein 1 mutation.
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DOI: 10.1097/mcd.0000000000000321
Abstract: Short clinical summary A 7-year-old boy born to non-consanguineous parents, with an unremarkable family history, presented with global developmental delay. Antenatal and perinatal periods were uneventful. He was born out of a full-term spontaneous vaginal… read more here.
Keywords: support months; case hypotonia; hypotonia ataxia; age ... See more keywords