Response to: does IARS2 deficiency cause an intrinsic disorder of bone development (skeletal dysplasia) or are the reported skeletal changes secondary to growth hormone deficiency and neuromuscular involvement?

Hum Mutat. 2015 Mar;36(3):389. doi: 10.1002/humu.22752.

Authors

Mark E Samuels¹, Nathalie Alos, Cheri L Deal

Affiliation

¹ Department of Medicine, University of Montreal, Montreal, QC, Canada; Centre de Recherche du CHU Ste-Justine, University of Montreal, Montreal, QC, Canada.

PMID: 25771765
DOI: 10.1002/humu.22752

No abstract available

Publication types

Letter
Comment

MeSH terms

Cataract / genetics*
Dwarfism, Pituitary / genetics*
Female
Hearing Loss, Sensorineural / genetics*
Humans
Isoleucine-tRNA Ligase / genetics*
Leigh Disease / genetics*
Male
Mutation*
Peripheral Nervous System Diseases / genetics*

Substances

Isoleucine-tRNA Ligase