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Article

Abnormal chondrocyte development in a zebrafish model of cblC syndrome restored by an MMACHC cobalamin binding mutant.

Differentiation; research in biological diversity - 1 Jan 2000

Paz David, Pinales Briana E, Castellanos Barbara S, Perez Isaiah, Gil Claudia B, Madrigal Lourdes Jimenez, Reyes-Nava Nayeli G, Castro Victoria L, Sloan Jennifer L, Quintana Anita M

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...

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Identifiers

PMID: 37167860
DOI: 10.1016/j.diff.2023.04.003
PMCID: PMC11373873

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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