A case report of MoCD etiology in a neonate: A novel homozygous MoCS2 variant
Key Clinical Message Molybdenum cofactor deficiency is a rare and fatal genetic disorder. Due to recurrence in the family, the etiological diagnosis could have impacted family planning and alertness to future offspring. Abstract Molybdenum cofactor deficiency (MoCD) is a rare and fatal genetic disor...
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| Hlavní autoři: | , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Wiley
2024-07-01
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| Edice: | Clinical Case Reports |
| Témata: | |
| On-line přístup: | https://doi.org/10.1002/ccr3.9169 |
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