Article

Abnormal chondrocyte intercalation in a zebrafish model of <i>cblC</i> syndrome restored by an MMACHC cobalamin binding mutant

2023-01-21

Abstract excerpt

Variants in the MMACHC gene cause combined methylmalonic acidemia and homocystinuria cblC type, the most common inborn error of intracellular cobalamin (vitamin B12) metabolism. cblC is associated with neurodevelopmental, hematological, ocular, and biochemical abnormalities. In a subset of patients, mild craniofacial dysmorphia has also been described. Mouse models of Mmachc deletion are embryonic lethal but c...

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Literature Corpus work: 213c36b0-b1a5-5ba8-8d7b-a145cb4ae2df
DOI: 10.1101/2023.01.20.524982

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