Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature.
Sentchordi-Montane, Lucia 1,2,3; Aza-Carmona, Miriam 2,3,4; Benito-Sanz, Sara 2,4; Barreda- Bonis, Ana C. 3,5; Sanchez-Garre, Consuelo 6; Prieto-Matos, Pablo 7; Ruiz-Ocana, Pablo 8; Lechuga-Sancho, Alfonso 8; Carcavilla-Urqui, Atilano 9; Mulero-Collantes, Ines 10; Martos-Moreno, Gabriel A. 11,12; del Pozo, Angela 2,4; Vallespin, Elena 2,4; Offiah, Amaka 13; Parron-Pajares, Manuel 3,14; Dinis, Isabel 15; Sousa, Sergio B. 16; Ros-Perez, Purificacion 17; Gonzalez-Casado, Isabel 3,5; Heath, Karen E. *,2,3,4
[Article]
Clinical Endocrinology.
88(6):820-829, June 2018.
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