Novel <i><scp>B3GALTL</scp></i> mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes
Eric Weh(University of Michigan), Elena V. Semina(Children's Hospital of Wisconsin), Stephanie E Wallace(Seattle Children's Hospital), Shelley K. Dills(Carolinas Medical Center), Linda M. Reis(Children's Hospital of Wisconsin), Mei Chao(Chang Gung University), J.C. Murray(University of Iowa), Rebecca C. Tyler(Children's Hospital of Wisconsin), William J. Rhead(Children's Hospital of Wisconsin), Tracy L. McGregor(Université Claude Bernard Lyon 1), David Bick(Medical College of Wisconsin)
Cited by 49
Related Papers
Implementing genomic medicine in the clinic: the future is here
|Genetics in Medicine|2013|581
Lumasiran, an RNAi Therapeutic for Primary Hyperoxaluria Type 1
|New England Journal of Medicine|2021|509
Survival after Treatment with Phenylacetate and Benzoate for Urea-Cycle Disorders
|New England Journal of Medicine|2007|357
Mutations in CHD7, Encoding a Chromatin-Remodeling Protein, Cause Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome
|The American Journal of Human Genetics|2008|332
Targeted disruption of mouse long-chain acyl-CoA dehydrogenase gene reveals crucial roles for fatty acid oxidation
|Proceedings of the National Academy of Sciences|1998|254