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ENShort Stature with Nonspecific Skeletal Abnormalities (SNSK)
Alias:
Snsk
Stature, Short, with Nonspecific Skeletal Abnormalities
Short Stature with Non-Specific Skeletal Abnormalities
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Short Stature with Nonspecific Skeletal Abnormalities, also known as snsk, is related to brachydactyly, type a1 and contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a. An important gene associated with Short Stature with Nonspecific Skeletal Abnormalities is NPR2 (Natriuretic Peptide Receptor 2). Affiliated tissues include bone, and related phenotypes are delayed skeletal maturation and proportionate short stature
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