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Exome sequencing and metabolomic analysis of a chronic kidney disease and hearing loss patient family revealed RMND1 mutation induced sphingolipid metabolism defects.
Saudi J Biol Sci. 2020 Jan;27(1):324-334. doi: 10.1016/j.sjbs.2019.10.001. Epub 2019 Oct 18.
Saudi J Biol Sci. 2020.
PMID: 31889854
Free PMC article.
A Novel Homozygous Frameshift Variant in DYM Causing Dyggve-Melchior-Clausen Syndrome in Pakistani Patients.
Gaboon NEA, Parveen A, Ahmad KA, Shuaib T, Al-Aama JY, Abdelwehab L, Arif A, Wasif N.
Gaboon NEA, et al.
Front Pediatr. 2020 Jul 16;8:383. doi: 10.3389/fped.2020.00383. eCollection 2020.
Front Pediatr. 2020.
PMID: 32766185
Free PMC article.
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