María Sol Touzón

Testis formation in XX individuals resulting from novel pathogenic variants in Wilms’ tumor 1 ( <i>WT1</i> ) gene

Caroline Eozénou, Nitzan Gonen, María Sol Touzón et al. · Proceedings of the National Academy of Sciences · 2020 · 86 citations · Full text

Life Sciences, Developmental Biology, Genetics +17

Androgen Insensitivity Syndrome: Clinical Phenotype and Molecular Analysis in a Single Tertiary Center Cohort

María Sol Touzón, Natalia Pérez Garrido, Roxana Marino et al. · Journal of Clinical Research in Pediatric Endocrinology · 2019 · 29 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Androgen Insensitivity Syndrome: Clinical Phenotype and Molecular Analysis in a Single Tertiary Center Cohort

María Sol Touzón, Natalia Pérez Garrido, Roxana Marino et al. · Journal of Clinical Research in Pediatric Endocrinology · 2018 · 26 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Ehlers–Danlos Syndrome: Molecular and Clinical Characterization of <i>TNXA/TNXB</i> Chimeras in Congenital Adrenal Hyperplasia

Roxana Marino, Natalia Pérez Garrido, Pablo Ramírez et al. · The Journal of Clinical Endocrinology & Metabolism · 2021 · 22 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Female-to-male sex reversal associated with unique Xp21.2 deletion disrupting genomic regulatory architecture of the dosage-sensitive sex reversal region

Pankaj Dangle, María Sol Touzón, Miguel Reyes‐Múgica et al. · Journal of Medical Genetics · 2017 · 18 citations

Medicine, Genetics, Molecular Genetics +17