Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature.
Lucia Sentchordi-MontanéMiriam Aza-CarmonaSara Benito-SanzAna C Barreda-BonisConsuelo Sánchez-GarrePablo Prieto-MatosPablo Ruiz-OcañaAlfonso Lechuga-SanchoAtilano Carcavilla-UrquíInés Mulero-CollantesGabriel A Martos-MorenoAngela Del PozoElena VallespínAmaka OffiahManuel Parrón-PajaresIsabel DinisSergio B SousaPurificación Ros-PérezIsabel González-CasadoKaren E HeathPublished in: Clinical endocrinology (2018)
ACAN should be considered as a candidate gene in patients with short stature and minor skeletal defects, particularly those with brachydactyly, and in patients with spondyloepiphyseal dysplasia. It is also important to note that advanced BA and osteoarticular complications are not obligatory conditions for aggrecanopathies/aggrecan-associated dysplasias.