Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature.
Sentchordi-Montané L, Aza-Carmona M, Benito-Sanz S, Barreda-Bonis AC, Sánchez-Garre C, Prieto-Matos P et al.
Clin Endocrinol (Oxf). 2018 Jun;88(6):820-829.
http://doi.org/10.1111/cen.13581
Epub 2018 Mar 24.