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Discondrosteosis de Leri-Weill. Mutación en gen SHOX y expresividad variable = Leri-Weill dyschondrosteosis. A variable expression SHOX gene mutationLLANO-RIVAS, I; FERNANDEZ-TORAL, J; NAVARRO-VERA, I et al.Anales de pediatria (2003. Ed. impresa). 2011, Vol 74, Num 6, pp 405-408, issn 1695-4033, 4 p.Article

SHOX haploinsufficiency and Leri-Weill dyschondrosteosis: Prevalence and growth failure in relation to mutation, sex, and degree of wrist deformityBINDER, Gerhard; RENZ, Alexandra; RANKE, Michael B et al.The Journal of clinical endocrinology and metabolism. 2004, Vol 89, Num 9, pp 4403-4408, issn 0021-972X, 6 p.Article

Auxology is a valuable instrument for the clinical diagnosis of SHOX haploinsufficiency in school-age children with unexplained short statureBINDER, Gerhard; RANKE, Michael B; MARTIN, David D et al.The Journal of clinical endocrinology and metabolism. 2003, Vol 88, Num 10, pp 4891-4896, issn 0021-972X, 6 p.Article

Pseudoautosomal linkage of Hodgkin diseaseHORWITZ, M; WIERNIK, P. H.American journal of human genetics. 1999, Vol 65, Num 5, pp 1413-1422, issn 0002-9297Article

Growth pattern and body proportion in a female with short stature homeobox-containing gene overdosage and gonadal estrogen deficiencyOGATA, Tsutomu; INOKUCHI, Mikako; OGAWA, Masamichi et al.European journal of endocrinology. 2002, Vol 147, Num 2, pp 249-254, issn 0804-4643Article

SHOX at a glance : from gene to proteinMARCHINI, Antonio; RAPPOLD, Gudrun; SCHNEIDER, Katja U et al.Archives of physiology and biochemistry. 2007, Vol 113, Num 3, pp 116-123, issn 1381-3455, 8 p.Conference Paper

Improved Molecular Diagnostics of Idiopathic Short Stature and Allied Disorders: Quantitative Polymerase Chain Reaction-Based Copy Number Profiling of SHOX and Pseudoautosomal Region 1D'HAENE, Barbara; HELLEMANS, Jan; SEGERS, Karin et al.The Journal of clinical endocrinology and metabolism. 2010, Vol 95, Num 6, pp 3010-3018, issn 0021-972X, 9 p.Article

SHOX : Growth, Léri-Weill and Turner syndromesBLASCHKE, R. J; RAPPOLD, G. A.Trends in endocrinology and metabolism. 2000, Vol 11, Num 6, pp 227-230, issn 1043-2760Conference Paper

The phenotype of short stature homeobox gene (SHOX) deficiency in childhood : Contrasting children with leri-weill dyschondrosteosis and turner syndromeROSS, Judith L; KOWAL, Karen; QUIGLEY, Charmian A et al.The Journal of pediatrics. 2005, Vol 147, Num 4, pp 499-507, issn 0022-3476, 9 p.Article

The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndromeCLEMENT-JONES, M; SCHILLER, S; LINDSAY, S et al.Human molecular genetics (Print). 2000, Vol 9, Num 5, pp 695-702, issn 0964-6906Article