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Genetics
MBL2 gene
Hereditary fibrosing poikiloderma with tendon contractures myopathy and pulmonary fibrosis
ALDH5A1 gene
Isolated Duane retraction syndrome
Dopa-responsive dystonia
BDNF gene
DCN gene
Myopathy with deficiency of iron-sulfur cluster assembly enzyme
CHRNG gene
PHF8 gene
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