TY  - JOUR 
AU  - Sentchordi‐Montané, Lucía
AU  - Aza‐Carmona, Miriam
AU  - Benito‐Sanz, Sara
AU  - Barreda‐ Bonis, Ana C.
AU  - Sánchez‐Garre, Consuelo
AU  - Prieto Matos, Pablo
AU  - Ruiz‐Ocaña, Pablo
AU  - Lechuga‐Sancho, Alfonso
AU  - Carcavilla‐Urquí, Atilano
AU  - Mulero‐Collantes, Inés
AU  - Martos‐Moreno, Gabriel A.
AU  - del Pozo, Angela
AU  - Vallespín, Elena
AU  - Offiah, Amaka
AU  - Parrón‐Pajares, Manuel
AU  - Dinis, Isabel
AU  - Sousa, Sergio B.
AU  - Ros‐Pérez, Purificación
AU  - González‐Casado, Isabel
AU  - Heath, Karen E.
PY  - 2018
SN  - 0300-0664
UR  - http://hdl.handle.net/10366/155664
AB  - [EN]Objective: Mutations in the aggrecan gene (ACAN) have been identified in two autosomal dominant skeletal dysplasias, spondyloepiphyseal dysplasia, Kimberley type
(SEDK), and osteochondritis dissecans, as well as in a severe recessive...
LA  - spa
KW  - ACAN
KW  - Aggrecan
KW  - Brachydactyly
KW  - Short stature
KW  - Skeletal dysplasia
TI  - Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature
DO  - 10.1111/cen.13581
T2  - Clinical Endocrinology
VL  - 88
M2  - 820
ER  -