NovelB3GALTLmutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes

Author:

Weh E.12,Reis L.M.1,Tyler R.C.1,Bick D.1,Rhead W.J.1,Wallace S.3,McGregor T.L.4,Dills S.K.5,Chao M.-C.67,Murray J.C.8,Semina E.V.12

Affiliation:

1. Department of Pediatrics, Children's Research Institute, Medical College of Wisconsin, Children's Hospital of Wisconsin; Milwaukee WI USA

2. Department of Cell Biology, Neurobiology and Anatomy; Medical College of Wisconsin; Milwaukee WI USA

3. Department of Pediatrics; Seattle Children's Hospital; Seattle WA USA

4. Department of Pediatrics; Vanderbilt University School of Medicine, Monroe Carell Jr. Children's Hospital at Vanderbilt; Nashville TN USA

5. Carolinas Medical Center; Charlotte NC USA

6. Department of Genome Medicine; College of Medicine, Kaohsiung Medical University; Kaohsiung Taiwan

7. Division of Genetics, Endocrinology and Metabolism, Department of Pediatrics; Kaohsiung Medical University Hospital; Kaohsiung Taiwan

8. Department of Pediatrics; University of Iowa; Iowa City IA USA

Publisher

Wiley

Subject

Genetics(clinical),Genetics

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