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ENSpondylometaphyseal Dysplasia, Pagnamenta Type (SMDP)
Alias:
Smdp
Dysplasia, Spondylometaphyseal, Pagnamenta Type
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Spondylometaphyseal Dysplasia, Pagnamenta Type, is also known as smdp. An important gene associated with Spondylometaphyseal Dysplasia, Pagnamenta Type is PRKG2 (Protein Kinase CGMP-Dependent 2). Affiliated tissues include cortex and bone, and related phenotypes are hypotonia and delayed skeletal maturation
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