Publicaciones en colaboración con investigadores/as de Universidad Autónoma de Madrid (5)

2023

  1. Growth patterns and outcomes of growth hormone therapy in patients with acrodysostosis

    Journal of Endocrinological Investigation, Vol. 46, Núm. 8, pp. 1673-1684

2020

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

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

  2. Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients

    Hormone Research in Paediatrics, Vol. 93, Núm. 3, pp. 182-196

2018

  1. Brachydactyly type C due to a nonsense mutation in the GDF5 gene

    Anales de Pediatria, Vol. 88, Núm. 2, pp. 107-109

  2. Diagnosis and management of pseudohypoparathyroidism and related disorders: First international Consensus Statement

    Nature Reviews Endocrinology, Vol. 14, Núm. 8, pp. 476-500