Short Stature in Isodicentric Y Chromosome and Three Copies of the SHOX Gene: Clinical Report and Review of Literature

Short stature homeobox gene (SHOX) mutations and pseudoautosomal region 1 (PAR1) deletions encompassing SHOX are known causes of Léri-Weill dyschondrosteosis and isolated short stature, while 3 copies of SHOX in cases with triple sex chromosome constitution are responsible for tall stature. Duplicat...

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Publicat a:Mol Syndromol
Autors principals: Valetto, Angelo, Bertini, Veronica, Michelucci, Angela, Toschi, Benedetta, Dati, Eleonora, Baroncelli, Giampietro I., Bertelloni, Silvano
Format: Artigo
Idioma:Inglês
Publicat: S. Karger AG 2016
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Original Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4862393/
https://ncbi.nlm.nih.gov/pubmed/27194969
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000444430
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