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Heterozygous aggrecan variants are associated with short stature and brachydact...
Sentchordi-Montané, L; Aza-Carmona, M; Benito-Sanz, S; Barreda-Bonis, AC; Sánchez-Garre, C; Prieto-Matos, P; Ruiz-Ocaña, P; Lechuga-Sancho, AOBJECTIVE: 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, spondyloepimetaphyseal dysplasia, aggrecan type. Next-generation sequencing (NGS) has aided the identification of heterozygous ACAN mutations in individuals with short s...
Data: 2018
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Origem: Repositório do Centro Hospitalar e Universitário de Coimbra