Sérgio B. de Sousa

Autosomal Recessive Mutations in MESD Cause Osteogenesis Imperfecta.

C. Kim, M. Warman, P. Nürnberg, 2019, American journal of human genetics.

Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.

T. Strom, H. Williams, H. Brunner, 2017, American journal of human genetics.

Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, but Not Ollier Disease or Maffucci Syndrome

J. Seidman, M. Vikkula, I. Holm, 2011, PLoS genetics.

The first European consensus on principles of management for achondroplasia

G. Mortier, M. Maghnie, M. Irving, 2021, Orphanet Journal of Rare Diseases.

RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6

H. Kayserili, N. Barker, C. Bénéteau, 2018, Nature.