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?

Subjects

Subjects :

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

Details

Language :

English

ISSN :

1098-1004

Volume :

36

Issue :

3

Database :

MEDLINE

Journal :

Human mutation

Publication Type :

Editorial & Opinion

Accession number :

25771764

Full Text :

https://doi.org/10.1002/humu.22753