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Quoted phrase not found in phrase index: "Spondyloepiphyseal dysplasia, Kimberley type"
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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, Ruiz-Ocaña P, Lechuga-Sancho A, Carcavilla-Urquí A, Mulero-Collantes I, Martos-Moreno GA, Del Pozo A, Vallespín E, Offiah A, Parrón-Pajares M, Dinis I, Sousa SB, Ros-Pérez P, González-Casado I, Heath KE. Sentchordi-Montané L, et al. Clin Endocrinol (Oxf). 2018 Jun;88(6):820-829. doi: 10.1111/cen.13581. Epub 2018 Mar 24. Clin Endocrinol (Oxf). 2018. PMID: 29464738 Free article. Review.
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 dysplasia, …
OBJECTIVE: Mutations in the aggrecan gene (ACAN) have been identified in two autosomal dominant skeletal dysplasias, spondyloepiphyseal …
A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis.
Gleghorn L, Ramesar R, Beighton P, Wallis G. Gleghorn L, et al. Am J Hum Genet. 2005 Sep;77(3):484-90. doi: 10.1086/444401. Epub 2005 Jul 22. Am J Hum Genet. 2005. PMID: 16080123 Free PMC article.
Spondyloepiphyseal dysplasia (SED) encompasses a heterogeneous group of disorders characterized by shortening of the trunk and limbs. The autosomal dominant SED type Kimberley (SEDK) is associated with premature degenerative arthropathy and has been pr …
Spondyloepiphyseal dysplasia (SED) encompasses a heterogeneous group of disorders characterized by shortening of the trunk and …