|1.||Rappold, Gudrun: 4 articles (04/2011 - 07/2005)|
|2.||Schneider, Katja U: 3 articles (04/2011 - 07/2005)|
|3.||Glaser, Anne: 2 articles (01/2014 - 04/2011)|
|4.||Marchini, Antonio: 2 articles (01/2014 - 06/2007)|
|5.||Röth, Ralph: 2 articles (01/2014 - 07/2005)|
|6.||Seo, Seung Hyeon: 1 article (09/2015)|
|7.||Choi, Won Bok: 1 article (09/2015)|
|8.||Kim, Su Young: 1 article (09/2015)|
|9.||Kwak, Min Jung: 1 article (09/2015)|
|10.||Yoo, Woo Hyun: 1 article (09/2015)|
|1.||Turner Syndrome (Turner's Syndrome)
09/01/2015 - "In addition, SHOX deficiency is associated with idiopathic short stature, Turner syndrome, and Langer mesomelic dysplasia. "
01/01/2014 - "Deficiency of the human short stature homeobox-containing gene (SHOX) has been identified in several disorders characterized by reduced height and skeletal anomalies such as Turner syndrome, Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia as well as isolated short stature. "
04/15/2011 - "In humans, SHOX deficiency has been associated with various short stature syndromes including Leri-Weill dyschondrosteosis (LWD), Langer mesomelic dysplasia and Turner syndrome as well as non-syndromic idiopathic short stature. "
06/01/2010 - "Homozygous loss of SHOX results in the more severe Langer mesomelic dysplasia, while SHOX haploinsufficiency cause a wide spectrum of short stature phenotypes, including patients with Turner syndrome, Leri Weill dyschondrosteosis (LWD), and idiopathic short stature (ISS). "
04/01/2006 - "Although originally described as causing idiopathic short stature, SHOX mutations are also responsible for growth retardation in Léri-Weill dyschondrosteosis, Langer mesomelic dysplasia and Turner syndrome. "
|2.||Congenital Abnormalities (Deformity)
09/01/2012 - "This mutation has been described to fully cosegregate with Madelung deformity in patients affected with Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia. "
06/01/2007 - "Shortly after, SHOX mutations were also associated with the growth failure and skeletal deformities seen in patients with Léri - Weill dyschondrosteosis and Langer mesomelic dysplasia. "
10/01/2005 - "Leri-Weill dyschondrosteosis (LWD) is a pseudoautosomal dominant disorder characterized by disproportionate short stature and a characteristic curving of the radius, known as the "Madelung deformity." SHOX mutations resulting in SHOX haploinsufficiency have been found in LWD and in a variable proportion of patients with idiopathic short stature (ISS), whereas homozygous loss of SHOX results in the more severe Langer mesomelic dysplasia (LMD). "
08/01/2000 - "Although originally described as causing idiopathic short stature, SHOX mutations are also responsible for mesomelic growth retardation and Madelung deformity in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia. "
01/01/1987 - "It has been suggested that dyschondrosteosis or the Madelung deformity are the phenotypic manifestations of the gene which causes Langer mesomelic dysplasia in the homozygote. "
|4.||Lymphedema (Milroy Disease)
03/01/2002 - "The results, in conjunction with the previous findings, suggest that mesomelic skeletal features such as Langer mesomelic dysplasia and LWDC, which are absent or rare in Turner syndrome, are primarily caused by the SHOX dosage effect and the bone maturing effect of gonadal estrogens, whereas other skeletal features such as short metacarpals, cubitus valgus, and various craniofacial and cervical skeletal stigmata, which are common in Turner syndrome, are largely contributed by a compressive effect of distended lymphatics and lymphedema on the developing skeletal tissues."
|5.||Mixed Gonadal Dysgenesis
|2.||Growth Hormone (Somatotropin)