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Article

Dissecting the role of vitamin B12 metabolism in craniofacial development through analysis of clinical phenotypes and model organism discoveries.

Differentiation; research in biological diversity - 1 Jan 2025

Pinales Briana E, Palomino Carlos E, Rosas-Acosta German, Francia Giulio, Quintana Anita M

Abstract excerpt

Vitamin B12, otherwise known as cobalamin, is an essential water-soluble vitamin that is obtained from animal derived dietary sources. Mutations in the genes that encode proteins responsible for cobalamin uptake, transport, or processing cause inborn errors of cobalamin metabolism, a group of disorders characterized by accumulation of homocysteine and methylmalonic acid, neurodevelopmental defects, ocular...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 39676000
DOI: 10.1016/j.diff.2024.100831
PMCID: PMC12794810

Genes

ABCD4
HCFC1
LMBRD1
MMACHC
MTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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