Literature DB >> 31724101

MATN3 Mutation Causing Spondyloepimetaphyseal Dysplasia.

L G Shyamasundar1, Lakshmi Loganathan1, Ashis Kumar1, Agnes Selina1, Vrisha Madhuri2.   

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Year:  2019        PMID： 31724101     DOI： 10.1007/s12098-019-03100-5

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


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  5 in total

1.  Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD.

Authors:  Z U Borochowitz; D Scheffer; V Adir; N Dagoneau; A Munnich; V Cormier-Daire
Journal:  J Med Genet       Date:  2004-05       Impact factor: 6.318

2.  Spondylo-meta-epiphyseal dysplasia, short limb, abnormal calcification type.

Authors:  L I al-Gazali; D Bakalinova; L Sztriha
Journal:  Clin Dysmorphol       Date:  1996-07       Impact factor: 0.816

3.  Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia.

Authors:  G C Jackson; F S Barker; E Jakkula; M Czarny-Ratajczak; O Mäkitie; W G Cole; M J Wright; S F Smithson; M Suri; P Rogala; G R Mortier; C Baldock; A Wallace; R Elles; L Ala-Kokko; M D Briggs
Journal:  J Med Genet       Date:  2004-01       Impact factor: 6.318

4.  Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia.

Authors:  Akihiko Mabuchi; Nobuhiko Haga; Koichi Maeda; Eiji Nakashima; Noriyo Manabe; Hisatada Hiraoka; Hiroshi Kitoh; Rika Kosaki; Gen Nishimura; Hirofumi Ohashi; Shiro Ikegawa
Journal:  Hum Mutat       Date:  2004-11       Impact factor: 4.878

Review 5.  Spondyloepimetaphyseal dysplasia: clinical and radiologic investigation of a large kindred manifesting autosomal dominant inheritance, and a review of the literature.

Authors:  A C Patel; W H McAlister; M P Whyte
Journal:  Medicine (Baltimore)       Date:  1993-09       Impact factor: 1.889
  5 in total
  1 in total

1.  Identification of MATN3 as a Novel Prognostic Biomarker for Gastric Cancer through Comprehensive TCGA and GEO Data Mining.

Authors:  Pan Wang; Wei-Sheng Xiao; Yue-Hua Li; Xiao-Ping Wu; Hong-Bo Zhu; Ye-Ru Tan
Journal:  Dis Markers       Date:  2021-12-02       Impact factor: 3.434
  1 in total

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