article_metadata: Janene Kuan Ashleigh Hansen Hua Wang
article_metadata: 10.3389/fped.2023.1282253
article_metadata: Front Pediatr
article_metadata: 2023 Dec 6:11:1282253.
article_metadata: 47 charcot-marie-tooth disease imnepd2 xxy autosomal recessive disorder multisystem disease tyrosyl-trna synthetase 1 (yars1) whole exome sequencing
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/38125821/
article_metadata: Case Reports
article_metadata: PMC10731953
article_metadata: 38125821
article_metadata: Case Report: A new case of YARS1-associated autosomal recessive disorder with compound heterozygous and concurrent 47, XXY
article_metadata: 2023