Literature DB >> 12624140

Acrocapitofemoral dysplasia: an autosomal recessive skeletal dysplasia with cone shaped epiphyses in the hands and hips.

G R Mortier, P P G Kramer, A Giedion, F A Beemer.   

Abstract

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Year:  2003        PMID： 12624140      PMCID： PMC1735386          DOI： 10.1136/jmg.40.3.201

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


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  4 in total

1.  Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips.

Authors:  Jan Hellemans; Paul J Coucke; Andres Giedion; Anne De Paepe; Peter Kramer; Frits Beemer; Geert R Mortier
Journal:  Am J Hum Genet       Date:  2003-03-11       Impact factor: 11.025

2.  Evolutionary genomics and adaptive evolution of the Hedgehog gene family (Shh, Ihh and Dhh) in vertebrates.

Authors:  Joana Pereira; Warren E Johnson; Stephen J O'Brien; Erich D Jarvis; Guojie Zhang; M Thomas P Gilbert; Vitor Vasconcelos; Agostinho Antunes
Journal:  PLoS One       Date:  2014-12-30       Impact factor: 3.240

Review 3.  Insights and Implications of Genome-Wide Association Studies of Height.

Authors:  Michael H Guo; Joel N Hirschhorn; Andrew Dauber
Journal:  J Clin Endocrinol Metab       Date:  2018-09-01       Impact factor: 5.958

Review 4.  Recent Insights into Long Bone Development: Central Role of Hedgehog Signaling Pathway in Regulating Growth Plate.

Authors:  Ryuma Haraguchi; Riko Kitazawa; Yukihiro Kohara; Aoi Ikedo; Yuuki Imai; Sohei Kitazawa
Journal:  Int J Mol Sci       Date:  2019-11-20       Impact factor: 5.923
  4 in total

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