A known pathogenic variant in the essential mitochondrial translation gene RMND1 causes a Perrault‐like syndrome with renal defects

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Veröffentlicht in:	Clinical genetics 2018-08, Vol.94 (2), p.276-277
Hauptverfasser:	Demain, L.A.M., Antunes, D., O'Sullivan, J., Bhaskhar, S.S., O'Keefe, R.T., Newman, W.G.
Format:	Artikel
Sprache:	eng
Schlagworte:	Cell Cycle Proteins - genetics Female Genetic Predisposition to Disease Gonadal Dysgenesis, 46,XX - complications Gonadal Dysgenesis, 46,XX - genetics Gonadal Dysgenesis, 46,XX - pathology Hearing Loss, Sensorineural - complications Hearing Loss, Sensorineural - genetics Hearing Loss, Sensorineural - pathology Humans Kidney Diseases - complications Kidney Diseases - genetics Kidney Diseases - pathology Mitochondria Mitochondria - genetics Whole Exome Sequencing
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