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Pediaditakis I, Haas SA,
Retterer K, Reed P,
Monaghan KG,
Haverfield E,
Natowicz M,
Myers A,
Kruer MC,
Stein Q,
Strauss KA,
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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...
-
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...
- doi:10.1259/bjr/20698753. PMID 18628322. Wadhwa, R. R.; Park, D. Y.;
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accuracy of computer-based
diagnostic tools for the...
- S2CID 28734677.
Akerman BR,
Zielenski J, Triggs-Raine BL,
Prence EM,
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Kaback MM,
Mules EH,
Thomas GH,
Clarke JT (1993). "A...
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Natowicz, M. R. (2018). "The
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diagnostic tools for the...