Disease: Deafness neurosensory pituitary dwarfism
- 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?
- Growth hormone treatment for growth hormone deficiency and idiopathic short stature: new guidelines shaped by the presence and absence of evidence
- Hearing loss in children with growth hormone deficiency
- Hearing status in adult individuals with lifetime, untreated isolated growth hormone deficiency
- MECHANISMS IN ENDOCRINOLOGY: The multiple facets of GHRH/GH/IGF-I axis: lessons from lifetime, untreated, isolated GH deficiency due to a GHRH receptor gene mutation
- Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome
- Perrault syndrome with growth hormone deficiency: a rare autosomal recessive disorder
- 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?
- Vestibular function in severe GH deficiency due to an inactivating mutation in the GH-releasing hormone receptor gene