Novel mutation and atlantoaxial dislocation in two siblings from India with Dyggve-Melchior-Clausen syndrome

K. M. Girisha, Valerie Cormier-Daire, Solange Heuertz, Rajendra V. Phadke, Shubha R. Phadke

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

Dyggve-Melchior-Clausen syndrome is a rare variety of spondyloepimetaphyseal dysplasia which often resembles Morquio syndrome. We describe two siblings from India with the condition and report a novel homozygous mutation in them (c.1172_1173insC). One of them had atlantoaxial dislocation.

Original languageEnglish
Pages (from-to)251-256
Number of pages6
JournalEuropean Journal of Medical Genetics
Volume51
Issue number3
DOIs
Publication statusPublished - 05-2008

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Mucopolysaccharidosis IV
India
Mutation
Dyggve-Melchior-Clausen syndrome

All Science Journal Classification (ASJC) codes

  • Genetics

Cite this

Girisha, K. M. ; Cormier-Daire, Valerie ; Heuertz, Solange ; Phadke, Rajendra V. ; Phadke, Shubha R. / Novel mutation and atlantoaxial dislocation in two siblings from India with Dyggve-Melchior-Clausen syndrome. In: European Journal of Medical Genetics. 2008 ; Vol. 51, No. 3. pp. 251-256.
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Novel mutation and atlantoaxial dislocation in two siblings from India with Dyggve-Melchior-Clausen syndrome. / Girisha, K. M.; Cormier-Daire, Valerie; Heuertz, Solange; Phadke, Rajendra V.; Phadke, Shubha R.

In: European Journal of Medical Genetics, Vol. 51, No. 3, 05.2008, p. 251-256.

Research output: Contribution to journalArticle

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