Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature.

doi:10.1111/cen.13581

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Article

Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature.

Clinical endocrinology - 1 Jun 2018

Sentchordi-Montané Lucía, Aza-Carmona Miriam, Benito-Sanz Sara, Barreda-Bonis Ana C, Sánchez-Garre Consuelo, Prieto-Matos Pablo, Ruiz-Ocaña Pablo, Lechuga-Sancho Alfonso, Carcavilla-Urquí Atilano, Mulero-Collantes Inés, Martos-Moreno Gabriel A, Del Pozo Angela, Vallespín Elena, Offiah Amaka, Parrón-Pajares Manuel, Dinis Isabel, Sousa Sergio B, Ros-Pérez Purificación, González-Casado Isabel, Heath Karen E

Abstract excerpt

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, spondyloepimetaphyseal dysplasia, aggrecan type. Next-generation sequencing (NGS) has aided the identification of heterozygous ACAN mutations in individuals with short...

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PMID: 29464738
DOI: 10.1111/cen.13581

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ACAN

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