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Article

Cobalamin F deficiency in a girl with severe skin hyperpigmentation and a homozygous LMBRD1 variant.

Clinical and experimental dermatology - 1 Apr 2022

Braz S V, Benicio R A, Tonelli G S S S, Báo S N, Moretti P N, Pic-Taylor A, Oliveira S F, Acevedo A C, Costa I M C, Mazzeu J F

Abstract excerpt

Cobalamin (vitamin B12) is important in gastrulation, nervous system development and haemoglobin formation. Mutations of the ABCD4 or LMBRD1 genes can lead to cobalamin-related disorders. We report a patient with disseminated skin hyperpigmentation caused by a homozygous LMBRD1 variant. Genetic disorders of cobalamin metabolism caused by variants in the ABCD4 or LMBRD1 genes should be considered in patients...

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Identifiers

PMID: 34958133
DOI: 10.1111/ced.15046

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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