L. Sentchordi

Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations

S. Lalani, M. Shinawi, J. Baron, 2017, The Journal of clinical endocrinology and metabolism.

Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gsα coding mutations and GNAS imprinting defects

M. Bastepe, O. Hiort, L. Pallardo, 2009, Journal of Medical Genetics.

Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature

A. Lerário, A. Jorge, Á. Campos-Barros, 2017, Genetics in Medicine.