A novel homozygous variant in C1QBP causes severe IUGR, edema, and cardiomyopathy in two fetuses
A novel homozygous variant in C1QBP causes severe IUGR, edema, and cardiomyopathy in two fetuses
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Hoboken, USA: John Wiley & Sons, Inc
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English
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Publisher
Hoboken, USA: John Wiley & Sons, Inc
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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 phenotypic presentation, severity, and age at onse...
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Full title
A novel homozygous variant in C1QBP causes severe IUGR, edema, and cardiomyopathy in two fetuses
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TN_cdi_doaj_primary_oai_doaj_org_article_3a27870e6e52468cb9e9eb302ca6ca16
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_3a27870e6e52468cb9e9eb302ca6ca16
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ISSN
2192-8312,2192-8304
E-ISSN
2192-8312
DOI
10.1002/jmd2.12209
