Skeletal Deformity Associated with <i>SHOX</i> Deficiency
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چکیده
منابع مشابه
Skeletal Deformity Associated with SHOX Deficiency
SHOX haploinsufficiency due to mutations in the coding exons or microdeletions involving the coding exons and/or the enhancer regions accounts for approximately 80% and 2-16% of genetic causes of Leri-Weill dyschondrosteosis and idiopathic short stature, respectively. The most characteristic feature in patients with SHOX deficiency is Madelung deformity, a cluster of anatomical changes in the w...
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ژورنال
عنوان ژورنال: Clinical Pediatric Endocrinology
سال: 2014
ISSN: 0918-5739,1347-7358
DOI: 10.1297/cpe.23.65