Publications in collaboration with researchers from Hospital Infanta Leonor (3)

2021

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

    European Journal of Endocrinology, Vol. 185, Núm. 5, pp. 691-705

2020

  1. Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants

    The Journal of clinical endocrinology and metabolism, Vol. 105, Núm. 8

2018

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

    Clinical Endocrinology, Vol. 88, Núm. 6, pp. 820-829