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Keywords: Dyschondrosteosis
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Journal Articles
Horm Res Paediatr (2011) 75 (2): 81–89.
Published Online: 04 February 2011
... term ‘SHOX’ were screened. Heterozygote SHOX mutations (80% deletions) were detected in 2–15% of individuals with formerly idiopathic short stature, in 50–90% of individuals with Leri-Weill dyschondrosteosis, and in almost 100% of girls with Turner syndrome. Mutational analysis is primarily performed...
Journal Articles
Hormone Research (2001) 55 (2): 71–76.
Published Online: 15 August 2001
...Gerhard Binder; Heidi Fritsch; Roland Schweizer; Michael B. Ranke Background/Aims: Leri-Weill dyschondrosteosis (LWD), a mesomelic short stature syndrome with Madelung deformity, was recently reported to be caused by SHOX (short stature homeobox-containing gene) haploinsufficiency. The loss of SHOX...