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A novel homozygous variant in C1QBP causes severe IUGR, edema, and cardiomyopathy in two fetuses
The C1QBP protein (complement component 1 Q subcomponent‐binding protein), encoded by the C1QBP gene, is a multifunctional protein predominantly localized in the mitochondrial matrix. Biallelic variants have previously been shown to give rise to combined respiratory‐chain deficiencies with variable...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley & Sons, Inc.
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8100402/ https://www.ncbi.nlm.nih.gov/pubmed/33977026 http://dx.doi.org/10.1002/jmd2.12209 |