Associated Papers
Novel pathogenic variant in a mild case of type B molybdenum cofactor deficiency: case report and literature review.
Kinsinger M et al.
Bmc Medical Genomics, 2024
39695700 (PubMed )
Supplement: 12920_2024_2027_MOESM1_ESM.zip › Supplementary › Supplementary_Online_Only_Table_1_MOCS2_6.2.24.xlsx › all_cases
Live Birth of a Healthy Child in a Couple with Identical mtDNA Carrying a Pathogenic c.471_477delTTTAAAAinsG Variant in the MOCS2 Gene.
Tofilo M et al.
Genes, 2023
Ocular characteristics of a 6-year-Old boy with molybdenum cofactor deficiency type B.
Yan W et al.
American Journal of Ophthalmology Case Reports, 2022
Molybdenum cofactor deficiency: A natural history.
Spiegel R et al.
Journal of Inherited Metabolic Disease, 2022
Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the MOCS2 Gene.
Jezela-Stanek A et al.
Diagnostics (basel, Switzerland), 2020
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