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- Title:
Diagnostic Odyssey in an Adult Patient with Ophthalmologic Abnormalities and Hearing Loss: Contribution of RNA-Seq to the Diagnosis of a PEX1 Deficiency
- Document type:
- Zeitschriftenaufsatz
- Author(s):
- Muñoz-Pujol, Gerard ; Alforja-Castiella, Socorro ; Casaroli-Marano, Ricardo ; Morales-Romero, Blai ; García-Villoria, Judit ; Yépez, Vicente A. ; Gagneur, Julien ; Gusic, Mirjana ; Prokisch, Holger ; Tort, Frederic ; Ribes, Antonia
- Keywords:
- Article ; macular oedema ; retinal dystrophy ; sensorineural hearing loss ; myopathic facies ; ; hypomorphic mutation ; RNA-seq ; very-long chain LPC
- Journal title:
- International Journal of Molecular Sciences
- Year:
- 2022
- Journal volume:
- 23
- Journal issue:
- 20
- Fulltext / DOI:
- doi:10.3390/ijms232012367
- Publisher:
- MDPI
- E-ISSN:
- 1422-0067
- Date of publication:
- 15.10.2022
- CC license:
- by, https://creativecommons.org/licenses/by/4.0
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