Concepedia

Clinical and Molecular Evaluation of SHOX/PAR1 Duplications in Léri-Weill Dyschondrosteosis (LWD) and Idiopathic Short Stature (ISS)

Sara Benito‐Sanz, Eva Barroso, Damián Heine‐Suñer, Alfonso Hisado-Oliva, Valeria Romanelli, Jordi Rosell, Ángel Aragonés, María Caimari, Jesús Argente, Judith L. Ross,

The Journal of Clinical Endocrinology & Metabolism · 2010 · 74 citations · 27 references

DOIFull text

Open access

Abstract

MLPA analysis of SHOX/PAR1 led to the identification of partial and complete SHOX duplications or multiple copies associated with LWD or ISS, suggesting that they may represent an additional class of mutations implicated in the molecular etiology of these clinical entities.

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