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Title: Two novel EBP mutations in Conradi-Hünermann-Happle syndrome
Authors: Surasawadee Ausavarat
Pranoot Tanpaiboon
Siraprapa Tongkobpetch
Kanya Suphapeetiporn
Vorasuk Shotelersuk
Keywords: Medicine
Issue Date: 1-Jan-2008
Abstract: Conradi-Hünermann-Happle syndrome, also known as chondrodysplasia punctata type 2 (CDPX2), is an X-linked dominant disorder characterized by skin defects, skeletal and ocular abnormalities. CDPX2 was shown to be caused by mutations in the gene encoding emopamil binding protein (EBP). At least 58 different mutations have been described. Here we present clinical and molecular findings in two unrelated Thai girls with CDPX2. Mutation analysis by PCR-sequencing the entire coding region of EBP successfully revealed two potentially pathogenic, novel mutations, c.616G→T and c.382delC. This study has expanded the spectrum of the EBP gene mutations causing CDPX2.
ISSN: 11671122
Appears in Collections:CMUL: Journal Articles

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