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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 Mutation in CCN6 Causing Progressive Pseudorheumatoid Dysplasia (PPRD) in a Consanguineous Yemeni Family.
Gaboon NEA, Parveen A, El Beheiry A, Al-Aama JY, Alsaedi MS, Wasif N.
Gaboon NEA, et al. Among authors: alsaedi ms.
Front Pediatr. 2019 Jun 25;7:245. doi: 10.3389/fped.2019.00245. eCollection 2019.
Front Pediatr. 2019.
PMID: 31294002
Free PMC article.
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