Article
Novel mutation and atlantoaxial dislocation in two siblings from India with Dyggve-Melchior-Clausen syndrome.
European journal of medical genetics - 1 Jan 2000
Girisha K M, Cormier-Daire Valerie, Heuertz Solange, Phadke Rajendra V, Phadke Shubha R
Abstract excerpt
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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