Article
Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome).
Journal of medical genetics - 1 Apr 2005
Kjaer K W, Hansen L, Schwabe G C, Marques-de-Faria A P, Eiberg H, Mundlos S, Tommerup N, Rosenberg T
Abstract excerpt
BACKGROUND: EEM syndrome is the rare association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. METHODS: We here demonstrate through molecular analysis that EEM is caused by distinct homozygous CDH3 mutations in two previously published families. RESULTS: In family 1, a missense mutation (c.965A-->T) causes a change of amino acid 322 from asparagine to isoleucine; this amino acid is located in a...
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