TY  - GEN
AU  - Vona,Barbara
AU  - Maroofian,Reza
AU  - Bellacchio,Emanuele
AU  - Najafi,Maryam
AU  - Thompson,Kyle
AU  - Alahmad,Ahmad
AU  - He,Langping
AU  - Ahangari,Najmeh
AU  - Rad,Abolfazl
AU  - Shahrokhzadeh,Sima
AU  - Bahena,Paulina
AU  - Mittag,Falk
AU  - Traub,Frank
AU  - Movaffagh,Jebrail
AU  - Amiri,Nafise
AU  - Doosti,Mohammad
AU  - Boostani,Reza
AU  - Shirzadeh,Ebrahim
AU  - Haaf,Thomas
AU  - Diodato,Daria
AU  - Schmidts,Miriam
AU  - Taylor,Robert W
AU  - Karimiani,Ehsan Ghayoor
TI  - Expanding the clinical phenotype of IARS2-related mitochondrial disease
SN  - 1471-2350
PY  - 2019///0522
KW  - Adult
KW  - Amino Acid Sequence
KW  - Bone Diseases, Developmental
KW  - diagnosis
KW  - Cataract
KW  - Consanguinity
KW  - Female
KW  - Gene Expression
KW  - Hearing Loss, Sensorineural
KW  - Hereditary Sensory and Autonomic Neuropathies
KW  - Homozygote
KW  - Humans
KW  - Isoleucine-tRNA Ligase
KW  - genetics
KW  - Leigh Disease
KW  - Male
KW  - Mitochondrial Diseases
KW  - Models, Molecular
KW  - Mutation, Missense
KW  - Pedigree
KW  - Protein Conformation
KW  - Protein Subunits
KW  - Syndrome
KW  - Exome Sequencing
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1186/s12881-018-0709-3
ER  -