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New evidence for association of recessive IARS gene mutations with hepatopathy, hypotonia, intellectual disability and growth retardation
Author(s) -
Smigiel R.,
Biela M.,
Biernacka A.,
Stembalska A.,
Sasiadek M.,
Kosinska J.,
Rydzanicz M.,
Ploski R.
Publication year - 2017
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.13080
Subject(s) - hypotonia , intellectual disability , genetics , gene , growth retardation , mutation , medicine , muscle hypotonia , biology , endocrinology , pregnancy