Disruption of PCP signaling causes limb morphogenesis and skeletal defects and may underlie Robinow syndrome and brachydactyly type B

By Wang Bing   Sinha Tanvi   Jiao Kai   Serra Rosa   Wang Jianbo  

Human Molecular Genetics, Vol. 20, Iss. 2, 2011-01 ,pp. : 271-285

Oxford University Press

Access to resources Recommend Favorite

Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutations

By  

American Journal Of Medical Genetics Part A, Vol. 167, Iss. 12, 2015-12 ,pp. : 3054-3061

John Wiley & Sons Inc

Access to resources Recommend Favorite

Nonsense mutations in FZD2 cause autosomal‐dominant omodysplasia: Robinow syndrome‐like phenotypes

By  

American Journal Of Medical Genetics Part A, Vol. 176, Iss. 3, 2018-03 ,pp. : 739-742

John Wiley & Sons Inc

Access to resources Recommend Favorite

Quantitative localization of heterogeneous methyl-CpG-binding protein 2 (MeCP2) expression phenotypes in normal and Rett syndrome brain by laser scanning cytometry

By Greco C.M.   LaSalle J.M.   Goldstine J.   Balmer D.  

Human Molecular Genetics, Vol. 10, Iss. 17, 2001-08 ,pp. : 1729-1740

Oxford University Press

Access to resources Recommend Favorite

Brachydactyly type A2 associated with a defect in proGDF5 processing

By Plger Frank   Seemann Petra   Schmidt-von Kegler Mareen   Lehmann Katarina   Seidel Jrg   Kjaer Klaus W.   Pohl Jens   Mundlos Stefan  

Human Molecular Genetics, Vol. 17, Iss. 9, 2008-05 ,pp. : 1222-1233

Oxford University Press

Access to resources Recommend Favorite