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
About this item
Full title
A novel homozygous variant in C1QBP causes severe IUGR, edema, and cardiomyopathy in two fetuses
Author / Creator
Journal title
JIMD reports, 2021, Vol.59 (1), p.20-25
Language
English
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Scope and Contents
Contents
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...
Alternative Titles
Full title
A novel homozygous variant in C1QBP causes severe IUGR, edema, and cardiomyopathy in two fetuses
Authors, Artists and Contributors
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Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_2526141915
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2526141915
Other Identifiers
ISSN
2192-8304
DOI
10.1002/jmd2.12209
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