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...

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Detalles Bibliográficos
Autores principales: Alstrup, Morten, Vogel, Ida, Sandager, Puk, Blechingberg, Jenny, Becher, Naja, Østergaard, Elsebet
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Case Reports
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

Internet

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

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