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
DO  - 10.1111/cen.13581
UR  - http://hdl.handle.net/10668/12159
T2  - Clinical endocrinology
AB  - 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 dysplasia,...
LA  - en
KW  - ACAN
KW  - aggrecan
KW  - brachydactyly
KW  - short stature
KW  - skeletal dysplasia
KW  - Adolescent
KW  - Aggrecans
KW  - Brachydactyly
KW  - Child
KW  - Child, Preschool
KW  - Female
KW  - Heterozygote
KW  - Humans
KW  - Infant
KW  - Male
KW  - Mutation
TI  - Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature.
TY  - research article
VL  - 88
ER  -