De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype

Author:

Roifman M.12,Marcelis C.L.M.3,Paton T.4,Marshall C.4,Silver R.1,Lohr J.L.5,Yntema H.G.3,Venselaar H.3,Kayserili H.6,van Bon B.3,Seaward G.7,Brunner H.G.3,Chitayat D.12,

Affiliation:

1. The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology; Mount Sinai Hospital; Toronto ON Canada

2. Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children; University of Toronto; Toronto ON Canada

3. Department of Human Genetics; Radboud University Medical Center; Nijmegen The Netherlands

4. The Centre for Applied Genomics and Program in Genetics and Genome Biology; The Hospital for Sick Children; Toronto ON Canada

5. Lillehei Heart Institute, University of Minnesota; Minneapolis MN USA

6. Medical Genetics Department; İstanbul Medical Faculty, Istanbul University; Istanbul Turkey

7. Department of Obstetrics and Gynecology; Mount Sinai Hospital, University of Toronto; Toronto ON Canada

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference14 articles.

1. A newly recognized dwarfism syndrome;Robinow;Am J Dis Child,1969

2. WNT5A mutations in patients with autosomal dominant Robinow syndrome;Person;Dev Dyn,2010

3. Wnt signaling in disease and in development;Nusse;Cell Res,2005

4. A Wnt5a pathway underlies outgrowth of multiple structures in the vertebrate embryo;Yamaguchi;Development,1999

5. Wnt5a is required for cardiac outflow tract septation in mice;Schleiffarth;Pedriatr Res,2007

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