Concepedia

Sara Benito‐Sanz

SB

Statistics

Publications

21

Citations

853

H-Index

17

Active since

2005

Affiliations

Universidad Autónoma de Madrid(Current)

Hospital Universitario La Paz

Centre for Biomedical Network Research on Rare Diseases

Instituto de Salud Carlos III

Instituto de Investigación de Enfermedades Raras

Sara Benito‐Sanz is an author at Universidad Autónoma de Madrid specializing in medicine, genetics, and developmental biology.

ORCID

Top concepts

Publications per year

2005–2023

21

Publications

21

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 · 133 citations · Full text

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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 · 74 citations · Full text

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 · 71 citations · Full text

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 · 67 citations

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 · 66 citations · Full text

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