Literature DB >> 15937074

Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene.

S Eyre, P Roby, K Wolstencroft, K Spreckley, R Aspinwall, R Bayoumi, L Al-Gazali, R Ramesar, P Beighton, L Gleghorn, G Wallis.   

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Year:  2005        PMID： 15937074      PMCID： PMC1736074     

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  3 in total

1.  A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis.

Authors:  Lindsay Gleghorn; Rajkumar Ramesar; Peter Beighton; Gillian Wallis
Journal:  Am J Hum Genet       Date:  2005-07-22       Impact factor: 11.025

Review 2.  The aggrecanopathies; an evolving phenotypic spectrum of human genetic skeletal diseases.

Authors:  Beth G Gibson; Michael D Briggs
Journal:  Orphanet J Rare Dis       Date:  2016-06-28       Impact factor: 4.123

3.  Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature.

Authors:  Nadine N Hauer; Heinrich Sticht; Sangamitra Boppudi; Christian Büttner; Cornelia Kraus; Udo Trautmann; Martin Zenker; Christiane Zweier; Antje Wiesener; Rami Abou Jamra; Dagmar Wieczorek; Jaqueline Kelkel; Anna-Maria Jung; Steffen Uebe; Arif B Ekici; Tilman Rohrer; André Reis; Helmuth-Günther Dörr; Christian T Thiel
Journal:  Sci Rep       Date:  2017-09-22       Impact factor: 4.379
  3 in total

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