Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)
September 2003
in “
Journal of Investigative Dermatology
”
Studysummary This study analyzed patients with X-linked dominant chondrodysplasia punctata and identified novel mutations in the emopamil-binding protein gene, highlighting the need for genetic testing alongside biochemical analysis for accurate diagnosis.
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