ArticleMolecular syndromology2016
A New, Atypical Case of Cobalamin F Disorder Diagnosed by Whole Exome Sequencing.
Article in Molecular syndromology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 2 of them syntheses that pooled it.
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Who cites it
7 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin BCell reports. Medicine · 2022Pooled it
- Ocular manifestations in patients with inborn errors of intracellular cobalamin metabolism: a systematic review.Human genetics · 2022Pooled it
- Metabolic mimic of inherited bone marrow failure: LMBRD1 (cblF) deficiency in an infant.International journal of hematology · 2026Article
- Phenotype puzzle: the role of novel LMBRD1 gene variant in Cbl deficiency causing Dyskeratosis Congenita-like clinical manifestations.Journal of human genetics · 2025Article
- Inherited disorders of lysosomal membrane transporters.Biochimica et biophysica acta. Biomembranes · 2020Review
- Vitamin B12 deficiency secondary to cobalamin F deficiency simulating dyskeratosis congenita.JAAD case reports · 2020Article
- Dissecting the role of vitamin BDifferentiation; research in biological diversityReview
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Authors and funding
8 authors.
Funding
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Abstract
Cobalamin F (cblF) disorder, caused by homozygous or compound heterozygous mutations in the LMBRD1 gene, is a recognised cause of developmental delay, pancytopaenia and failure to thrive which may present in the neonatal period. A handful of cases have been reported in the medical literature. We report a new case, diagnosed at the age of 6 years through whole exome sequencing, with atypical features including prominent metopic suture, cleft palate, unilateral renal agenesis and liver abnormalities, which broaden the phenotypic spectrum.
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Registered trials
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