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

doi:10.1016/j.ejmg.2007.12.004

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

^*Corresponding author for this work

Department of Medical Genetics, Kasturba Medical College, Manipal

Research output: Contribution to journal › Article › peer-review

10 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 language	English
Pages (from-to)	251-256
Number of pages	6
Journal	European Journal of Medical Genetics
Volume	51
Issue number	3
DOIs	https://doi.org/10.1016/j.ejmg.2007.12.004
Publication status	Published - 05-2008

All Science Journal Classification (ASJC) codes

Genetics

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10.1016/j.ejmg.2007.12.004

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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.",

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AU - Girisha, K. M.

AU - Cormier-Daire, Valerie

AU - Heuertz, Solange

AU - Phadke, Rajendra V.

AU - Phadke, Shubha R.

PY - 2008/5

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N2 - 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.

AB - 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.

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UR - https://www.scopus.com/pages/publications/43049159088#tab=citedBy

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M3 - Article

C2 - 18243083

AN - SCOPUS:43049159088

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JF - European Journal of Medical Genetics

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ER -

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

Abstract

All Science Journal Classification (ASJC) codes

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