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...

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Detalles Bibliográficos
Autores principales: Censani, Marisa, Anyane-Yeboa, Kwame, Wapner, Ronald, Spiegel, Erica, Guzman, Edwin, Oberfield, Sharon E
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Case Report
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

Internet

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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