Inés Mulero-Collantes

Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature

A. Offiah, C. Sánchez-Garre, E. Vallespín, 2018, Clinical endocrinology.

Clinical and molecular description of 16 families with heterozygous IHH variants.

Gabriela A. Vasques, C. de la Torre, E. Vallespín, 2020, The Journal of clinical endocrinology and metabolism.

High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies.

F. Santos-Simarro, J. Nevado, C. de la Torre, 2021, European journal of endocrinology.