jmg.bmj3h
A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25
METHODS A large family is described in which mental retardation segregates as an X linked trait. Six affected males in three generations were studied by linkage and clinical examination. RESULTS ...
jmg.bmj14h
Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders
4 Department of Pediatrics, Korea University College of Medicine, Seoul, Korea Correspondence to Dr Si Houn Hahn, Department of Pediatrics, University of Washington School of Medicine, Seattle ...