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De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype.
Roifman, M; Marcelis, C L M; Paton, T; Marshall, C; Silver, R; Lohr, J L; Yntema, H G; Venselaar, H; Kayserili, H; van Bon, B; Seaward, G; Brunner, H G; Chitayat, D.
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  • Roifman M; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, Toronto, ON, Canada; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
Clin Genet ; 87(1): 34-41, 2015.
Article in En | MEDLINE | ID: mdl-24716670
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Urogenital Abnormalities / Models, Molecular / Proto-Oncogene Proteins / Limb Deformities, Congenital / Craniofacial Abnormalities / Dwarfism / Wnt Proteins Type of study: Prognostic_studies / Risk_factors_studies Limits: Humans / Male Language: En Journal: Clin Genet Year: 2015 Document type: Article Affiliation country: Canadá Country of publication: Dinamarca
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Urogenital Abnormalities / Models, Molecular / Proto-Oncogene Proteins / Limb Deformities, Congenital / Craniofacial Abnormalities / Dwarfism / Wnt Proteins Type of study: Prognostic_studies / Risk_factors_studies Limits: Humans / Male Language: En Journal: Clin Genet Year: 2015 Document type: Article Affiliation country: Canadá Country of publication: Dinamarca