Sökning: WFRF:(Nanna Michael G)
> (2015-2019) >
An Expanded Multi-O...
An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS
-
- Tracewska-Siemiątkowska, Anna (författare)
- DNA Analysis Laboratory, Wrocław Research Centre EIT+, Wrocław, Poland; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands
-
- Haer-Wigman, Lonneke (författare)
- Department of Human Genetics, Radboud University Medical Center, Nijmegen,The Netherlands
-
- Bosch, Danielle G. M. (författare)
- Department of Human Genetics, Radboud University Medical Center, Nijmegen,The Netherlands; Bartiméus, Institute for the Visually Impaired, Zeist, The Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands
-
visa fler...
-
- Nickerson, Deborah (författare)
- Department of Genome Sciences, University of Washington, Seattle WA, USA
-
- Bamshad, Michael J. (författare)
- Department of Pediatrics, University of Washington, Seattle WA, USA
-
- van de Vorst, Maartje (författare)
- Department of Human Genetics, Radboud University Medical Center, Nijmegen,The Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands
-
- Rendtorff, Nanna Dahl (författare)
- Department of Clinical Genetics,The Kennedy Centre/Rigshospitalet/, Glostrup, Denmark,Copenhagen University Hospital
-
- Möller, Claes, 1950- (författare)
- Örebro universitet,Institutionen för hälsovetenskaper,Audiological Research Centre, University Hospital Örebro, Örebro, Sweden; Swedish Institute of Disability Research, Örebro University, Örebro, Sweden
-
- Kjellström, Ulrika (författare)
- Lund University,Lunds universitet,Oftalmologi, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Ophthalmology, Lund,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine
-
- Andréasson, Sten (författare)
- Lund University,Lunds universitet,Oftalmologi, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Ophthalmology, Lund,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine
-
- Cremers, Frans P. M. (författare)
- Department of Human Genetics, Radboud University Medical Center, Nijmegen,The Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen,The Netherlands
-
- Tranebjærg, Lisbeth (författare)
- Department of Clinical Genetics, The Kennedy Centre/Rigshospitalet/, Glostrup, Denmark; Institute of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark
-
visa färre...
-
(creator_code:org_t)
-
- 2017-12-11
- 2017
- Engelska.
-
Ingår i: Genes. - Basel, Switzerland : MDPI AG. - 2073-4425. ; 8:12
- Relaterad länk:
-
https://doi.org/10.3...
-
visa fler...
-
https://www.mdpi.com...
-
http://dx.doi.org/10... (free)
-
https://urn.kb.se/re...
-
https://doi.org/10.3...
-
https://lup.lub.lu.s...
-
visa färre...
Abstract
Ämnesord
Stäng
- Whole exome sequence analysis was performed in a Swedish mother-father-affected proband trio with a phenotype characterized by progressive retinal degeneration with congenital nystagmus, profound congenital hearing impairment, primary amenorrhea, agenesis of the corpus callosum, and liver disease. A homozygous variant c.806T > C, p.(F269S) in the tyrosyl-tRNA synthetase gene (YARS) was the only identified candidate variant consistent with autosomal recessive inheritance. Mutations in YARS have previously been associated with both autosomal dominant Charcot-Marie-Tooth syndrome and a recently reported autosomal recessive multiorgan disease. Herein, we propose that mutations in YARS underlie another clinical phenotype adding a second variant of the disease, including retinitis pigmentosa and deafness, to the spectrum of YARS-associated disorders.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Oftalmologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Ophthalmology (hsv//eng)
Nyckelord
- YARS
- syndromic retinitis pigmentosa
- whole exome sequencing
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
Hitta via bibliotek
-
Genes
(Sök värdpublikationen i LIBRIS)
Till lärosätets databas
- Av författaren/redakt...
-
Tracewska-Siemią ...
-
Haer-Wigman, Lon ...
-
Bosch, Danielle ...
-
Nickerson, Debor ...
-
Bamshad, Michael ...
-
van de Vorst, Ma ...
-
visa fler...
-
Rendtorff, Nanna ...
-
Möller, Claes, 1 ...
-
Kjellström, Ulri ...
-
Andréasson, Sten
-
Cremers, Frans P ...
-
Tranebjærg, Lisb ...
-
visa färre...
- Om ämnet
-
- MEDICIN OCH HÄLSOVETENSKAP
-
MEDICIN OCH HÄLS ...
-
och Medicinska och f ...
-
och Medicinsk geneti ...
-
- MEDICIN OCH HÄLSOVETENSKAP
-
MEDICIN OCH HÄLS ...
-
och Klinisk medicin
-
och Oftalmologi
- Artiklar i publikationen
-
Genes
- Av lärosätet
-
Örebro universitet
-
Lunds universitet