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Inborn Error of Vitamin B12 Metabolism due to a Novel LMBRD1 Variant: A Mimicker of Dyskeratosis CongenitaDOI 10.1007/s12288-026-02534-0
Dyskeratosis congenita: a literature review.Semantic proximity
A novel mutation in LMBRD1 causes the cblF defect of vitamin B(12) metabolism in a Turkish patient.Semantic proximity
<i>LMBRD1</i>: the gene for the cblF defect of vitamin B<sub>12</sub> metabolismSemantic proximity
Cobalamin F deficiency in a girl with severe skin hyperpigmentation and a homozygous LMBRD1 variant.Semantic proximity
Dyskeratosis congenita with a novel genetic variant in the DKC1 gene: a case reportSemantic proximity
Siblings with vitamin D-dependent rickets type 1A: Importance of genetic testing and a review of genotype-phenotype correlations.Semantic proximity
Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.Semantic proximity
The genetics of dyskeratosis congenitaSemantic proximity
Beyond the triad: Inheritance, mucocutaneous phenotype, and mortality in a cohort of patients with dyskeratosis congenitaSemantic proximity
Progressive hyperpigmentation in a Taiwanese child due to an inborn error of vitamin B12 metabolism (cblJ).Semantic proximity
[Dyskeratosis congenita].Semantic proximity
Vitamin D-dependent rickets (VDDR) type 1: case series of two siblings with a CYP27B1 mutation and review of the literature.Semantic proximity
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