Article
A puzzle over several decades: eye anomalies with FRAS1 and STRA6 mutations in the same family.
Clinical genetics - 1 Feb 2013
Ng W Y, Pasutto F, Bardakjian T M, Wilson M J, Watson G, Schneider A, Mackey D A, Grigg J R, Zenker M, Jamieson R V
Abstract excerpt
Fraser syndrome (FS) and microphthalmia syndromic 9 (MCOPS9) are autosomal recessive conditions with distinct, and some overlapping features affecting the ocular, respiratory and cardiac systems. Mutations in FRAS1 and FREM2 occur in FS, and mutations in STRA6 occur in MCOPS9. We report two sibships, in the same family, where four deceased offspring had ocular, respiratory and cardiac abnormalities. Two sibs with...
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