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Rare inheritance of Leri-Weill Syndrome due to crossover of short stature Homeobox Gene (SHOX) Deletions between X and Y Chromosomes: a case report
BACKGROUND: Leri-Weill syndrome (LWS) is a genetic disorder caused by deletions or mutations in the SHOX gene or by deletions downstream of the gene and is classically characterized by short stature, mesomelic shortening of forearms and legs, and Madelung deformity. Correct identification of short s...
Autores principales: | Censani, Marisa, Anyane-Yeboa, Kwame, Wapner, Ronald, Spiegel, Erica, Guzman, Edwin, Oberfield, Sharon E |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3716959/ https://www.ncbi.nlm.nih.gov/pubmed/23809065 http://dx.doi.org/10.1186/1687-9856-2013-11 |
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