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A Leri-Weill dyschondrosteosis patient confirmed by mutation analysis of |
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Won Bok Choi, Seung Hyeon Seo, Woo Hyun Yoo, Su Young Kim, Min Jung Kwak | |
Ann Pediatr Endocrinol Metab. 2015;20(3):162-165. Published online September 30, 2015 DOI: https://doi.org/10.6065/apem.2015.20.3.162 |
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A Leri-Weill dyschondrosteosis patient confirmed by mutation analysis ofSHOXgene The Phenotype of Short Stature Homeobox Gene (SHOX) Deficiency in Childhood: Contrasting Children With Leri-Weill Dyschondrosteosis and Turner Syndrome Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis Shox : effect in leri-weill dyschondrosteosis Dyschondrosteosis (Leri-Weill syndrome) SHOX gene mutations and deletions in dyschondrosteosis or Leri-Weill syndrome Alteration of DNA binding, dimerization, and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Leri-Weill dyschondrosteosis SHOX mutations in dyschondrosteosis (Leri-Weill syndrome) P14.03: Prenatal diagnosis and counselling of Leri-Weill dyschondrosteosis The Phenotype of Short Stature Homeobox Gene (SHOX) Deficiency in Childhood: Contrasting Children with Leri-Weill Dyschondrosteosis and Turner Syndrome |