Sara Benito‐Sanz

A Novel Class of Pseudoautosomal Region 1 Deletions Downstream of SHOX Is Associated with Léri-Weill Dyschondrosteosis

Sara Benito‐Sanz, N. Simon Thomas, Céline Huber et al. · The American Journal of Human Genetics · 2005 · 134 citations · Full text

Medicine, Pathobiology, Pathology +4

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 et al. · The Journal of Clinical Endocrinology & Metabolism · 2010 · 76 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Heterozygous<i>NPR2</i>Mutations Cause Disproportionate Short Stature, Similar to Léri-Weill Dyschondrosteosis

Alfonso Hisado-Oliva, Ana Isabel Garre-Vazquez, Fabiola Santaolalla-Caballero et al. · The Journal of Clinical Endocrinology & Metabolism · 2015 · 73 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel <i>SHOX</i> enhancer

Sara Benito‐Sanz, José Luís Royo, Eva Barroso et al. · Journal of Medical Genetics · 2012 · 68 citations

Life Sciences, Cell Biology, Immunology +17

Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature

Alfonso Hisado-Oliva, Alba Ruzafa-Martin, Lucia Sentchordi et al. · Genetics in Medicine · 2017 · 68 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12