Robinow syndrome: Phenotypic variability in a family with a novel intragenicROR2mutation
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference22 articles.
1. Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2;Afzal;Nat Genet,2000
2. Novel Robinow syndrome causing mutations in the proximal region of the frizzled-like domain of ROR2 are retained in the endoplasmic reticulum;Ali;Hum Genet,2007
3. ER-associated protein degradation is a common mechanism underpinning numerous monogenic diseases including Robinow syndrome;Chen;Hum Mol Genet,2005
4. Chronic tonsillar herniation in Crouzon's and Apert's syndromes: The role of premature synostosis of the lambdoid suture;Cinalli;J Neurosurg,1995
5. Thoracolumbar syrinx in association with Williams syndrome;Cohen;Pediatrics,2006
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