Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri–Weill dyschondrosteosis

Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome

Ercole Rao, Maki Fukami, Andreas Rump et al. · Nature Genetics · 1997 · 954 citations

Medicine, Genetics, Molecular Genetics +14

Mechanisms for human genomic rearrangements

Wenli Gu, Feng Zhang, James R. Lupski · PathoGenetics · 2008 · 719 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Genotypes and phenotypes in children with short stature: clinical indicators of <i>SHOX</i> haploinsufficiency

Gudrun Rappold, W. F. Blum, Elena P. Shavrikova et al. · Journal of Medical Genetics · 2006 · 258 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Deletions of the Homeobox Gene<i>SHOX</i>(Short Stature Homeobox) Are an Important Cause of Growth Failure in Children with Short Stature

Gudrun Rappold, Maki Fukami, Beate Niesler et al. · The Journal of Clinical Endocrinology & Metabolism · 2002 · 209 citations

Life Sciences, Genetics, Pediatrics +16

Phenotypes Associated with SHOX Deficiency

Judith L. Ross, Charles I. Scott, Pia Marttila et al. · The Journal of Clinical Endocrinology & Metabolism · 2001 · 208 citations

Medicine, Genetics, Molecular Genetics +17