A. Barreda-Bonis

Hypoinsulinaemic, hypoketotic hypoglycaemia due to mosaic genetic activation of PI3-kinase

S. O’Rahilly, S. Davies, I. Barroso, 2017, European journal of endocrinology.

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.

Multiple SLC26A2 mutations occurring in a three-generational family.

K. Heath, I. González-Casado, A. Barreda-Bonis, 2018, European journal of medical genetics.

Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer

J. Lupski, J. Gómez-Skarmeta, J. Royo, 2012, Journal of Medical Genetics.

Heterozygous NPR2 Mutations Cause Disproportionate Short Stature, Similar to Léri-Weill Dyschondrosteosis.

Gabriela A. Vasques, A. Jorge, Á. Campos-Barros, 2015, The Journal of clinical endocrinology and metabolism.

Central Hypothyroidism and Novel Clinical Phenotypes in Hemizygous Truncation of TBL1X

E. Vallespín, Á. Del Pozo, J. Moreno, 2018, Journal of the Endocrine Society.

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.

Transition of patients with metabolic bone disease from paediatric to adult healthcare services: current situation and proposals for improvement

J. Torregrosa, B. Soler-López, E. Casado, 2023, Orphanet Journal of Rare Diseases.