Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54

Biallelic hypomorphic variants in PRORP have been recently described as causing the autosomal recessive disorder combined oxidative phosphorylation deficiency type 54 (COXPD54). COXPD54 encompasses a phenotypic spectrum of sensorineural hearing loss and ovarian insufficiency (Perrault syndrome) to l...

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Detalles Bibliográficos
Autores principales: Smith, Thomas B., Rea, Alessandro, Thomas, Huw B., Thompson, Kyle, Oláhová, Monika, Maroofian, Reza, Zamani, Mina, He, Langping, Sadeghian, Saeid, Galehdari, Hamid, Lotan, Nava Shaul, Gilboa, Tal, Herman, Kristin C., McCorvie, Thomas J., Yue, Wyatt W., Houlden, Henry, Taylor, Robert W., Newman, William G., O’Keefe, Raymond T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2023
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10545766/
https://www.ncbi.nlm.nih.gov/pubmed/37558808
http://dx.doi.org/10.1038/s41431-023-01437-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10545766/
https://www.ncbi.nlm.nih.gov/pubmed/37558808
http://dx.doi.org/10.1038/s41431-023-01437-2

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