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Pediaditakis I, Haas SA,
Retterer K, Reed P,
Monaghan KG,
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Kruer MC,
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Strauss KA,
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muscle hypertrophy MSTN
Myotonic dystrophy DMPK, CNBP
dominant or T 1:8,000
Natowicz syndrome HYAL1 <1:1,000,000
Neurofibromatosis type I 17q11.2 Neurofibromatosis...
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short stature,
corneal clouding,
developmental delay <1:250,000 MPS IX
Natowicz syndrome Hyaluronidase deficiency 601492 HYAL1 3p21.31
Hyaluronidase Hyaluronic...
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