Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disor...
Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM)
About this item
Full title
Author / Creator
Tucker, Elena J. , Rius, Rocio , Jaillard, Sylvie , Bell, Katrina , Lamont, Phillipa J. , Travessa, André , Dupont, Juliette , Sampaio, Lurdes , Dulon, Jérôme , Vuillaumier-Barrot, Sandrine , Whalen, Sandra , Isapof, Arnaud , Stojkovic, Tanya , Quijano-Roy, Susana , Robevska, Gorjana , van den Bergen, Jocelyn , Hanna, Chloe , Simpson, Andrea , Ayers, Katie , Thorburn, David R. , Christodoulou, John , Touraine, Philippe and Sinclair, Andrew H.
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title
Language
English
Formats
Publication information
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Subjects
More information
Scope and Contents
Contents
Perrault syndrome is a rare heterogeneous condition characterised by sensorineural hearing loss and premature ovarian insufficiency. Additional neuromuscular pathology is observed in some patients. There are six genes in which variants are known to cause Perrault syndrome; however, these explain only a minority of cases. We investigated the genetic...
Alternative Titles
Full title
Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM)
Authors, Artists and Contributors
Author / Creator
Rius, Rocio
Jaillard, Sylvie
Bell, Katrina
Lamont, Phillipa J.
Travessa, André
Dupont, Juliette
Sampaio, Lurdes
Dulon, Jérôme
Vuillaumier-Barrot, Sandrine
Whalen, Sandra
Isapof, Arnaud
Stojkovic, Tanya
Quijano-Roy, Susana
Robevska, Gorjana
van den Bergen, Jocelyn
Hanna, Chloe
Simpson, Andrea
Ayers, Katie
Thorburn, David R.
Christodoulou, John
Touraine, Philippe
Sinclair, Andrew H.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_hal_primary_oai_HAL_hal_02796991v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_02796991v1
Other Identifiers
ISSN
0340-6717
E-ISSN
1432-1203
DOI
10.1007/s00439-020-02176-w
