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MATN3 Mutation Causing Spondyloepimetaphyseal Dysplasia

  • L. G. Shyamasundar
  • Lakshmi Loganathan
  • Ashis Kumar
  • Agnes Selina
  • Vrisha MadhuriEmail author
Scientific Letter
  • 27 Downloads

Notes

Compliance with Ethical Standards

Conflict of Interest

None.

References

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    Borochowitz ZU, Scheffer D, Adir V, Dagoneau N, Munnich A, Cormier-Daire V. Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD. J Med Genet. 2004;41:366–72.CrossRefGoogle Scholar
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    Mabuchi A, Haga N, Maeda K, et al. Novel and recurrent mutations clustered in the von Willebrand factor a domain of MATN3 in multiple epiphyseal dysplasia. Hum Mutat. 2004;24:439–40.CrossRefGoogle Scholar
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    Jackson GC, Barker FS, Jakkula E, et al. Missense mutations in the β strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia. J Med Genet. 2004;41:52–9.CrossRefGoogle Scholar
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    Patel AC, McAlister WH, Whyte MP. Spondyloepimetaphyseal dysplasia: clinical and radiologic investigation of a large kindred manifesting autosomal dominant inheritance, and a review of the literature. Medicine (Baltimore). 1993;72:326–42.CrossRefGoogle Scholar
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    Al-Gazali LI, Bakalinova D, Sztriha L. Spondylo-meta-epiphyseal dysplasia, short limb, abnormal calcification type. Clin Dysmorphol. 1996;5:197–206.PubMedGoogle Scholar

Copyright information

© Dr. K C Chaudhuri Foundation 2019

Authors and Affiliations

  1. 1.Pediatric Orthopedic UnitChristian Medical CollegeVelloreIndia

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