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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?
Author(s) -
Mordaunt Dylan A.,
Savaririyan Ravi
Publication year - 2015
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.22753
Subject(s) - dysplasia , biology , context (archaeology) , mitochondrial disease , mitochondrial encephalomyopathy , pathology , endocrinology , medicine , genetics , mitochondrial dna , gene , paleontology