1.0JMG Contact bloghttps://blogs.bmj.com/jmghqquhttps://blogs.bmj.com/jmg/author/hqiqu/Mutations in GRIP1 cause Fraser syndrome (Contributed by Dr. Maartje Vogel) - JMG Contact blogrich600338<blockquote class="wp-embedded-content" data-secret="JZsqJG64bq"><a href="https://blogs.bmj.com/jmg/2012/04/17/mutations-in-grip1-cause-fraser-syndrome/">Mutations in GRIP1 cause Fraser syndrome (Contributed by Dr. Maartje Vogel)</a></blockquote><iframe sandbox="allow-scripts" security="restricted" src="https://blogs.bmj.com/jmg/2012/04/17/mutations-in-grip1-cause-fraser-syndrome/embed/#?secret=JZsqJG64bq" width="600" height="338" title="“Mutations in GRIP1 cause Fraser syndrome (Contributed by Dr. Maartje Vogel)” — JMG Contact blog" data-secret="JZsqJG64bq" frameborder="0" marginwidth="0" marginheight="0" scrolling="no" class="wp-embedded-content"></iframe><script type="text/javascript">
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Fraser syndrome (FS) is a rare genetically heterogeneous recessive disorder. FS patients are born with severe malformations affecting their eyes (cryptophthalmos), skin covering the digits (cutaneous syndactyly), respiratory tract, kidneys and genitals. The molecular defect underlying the majority of FS patients is unknown. Thus far mutations in two genes (FRAS1 and FREM2) are known to [...]Read More...