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

Sara BenitoSanz | Zendy; Eva Barroso | Zendy; Damián HeineSuñer | Zendy; Alfonso Hisado-Oliva | Zendy; Valeria Romanelli | Zendy; Jordi Rosell | Zendy; Ángel Aragonés | Zendy; María Caimari | Zendy; Jesús Argente | Zendy; Judith L. Ross | Zendy; Andrew R. Zinn | Zendy; R Gracia | Zendy; Pablo Lapunzina | Zendy; Ángel CamposBarros | Zendy; Karen E. Heath | Zendy

Open Access

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

Author(s) -

Sara BenitoSanz,

Eva Barroso,

Damián HeineSuñer,

Alfonso Hisado-Oliva,

Valeria Romanelli,

Jordi Rosell,

Ángel Aragonés,

María Caimari,

Jesús Argente,

Judith L. Ross,

Andrew R. Zinn,

R Gracia,

Pablo Lapunzina,

Ángel CamposBarros,

Karen E. Heath

Publication year - 2010

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2010-1689

Subject(s) - pseudoautosomal region , short stature , idiopathic short stature , multiplex ligation dependent probe amplification , biology , genetics , dysplasia , x chromosome , endocrinology , growth hormone , gene , hormone , exon

Léri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia characterized by disproportionate short stature and the Madelung deformity of the forearm. SHOX mutations and pseudoautosomal region 1 deletions encompassing SHOX or its enhancers have been identified in approximately 60% of LWD and approximately 15% of idiopathic short stature (ISS) individuals. Recently SHOX duplications have been described in LWD/ISS but also in individuals with other clinical manifestations, thus questioning their pathogenicity.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research