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          Institute: MPI für molekulare Genetik     Collection: Research Group Development and Disease     Display Documents



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ID: 411620.0, MPI für molekulare Genetik / Research Group Development and Disease
Robinow syndrome: Phenotypic variability in a family with a novel intragenic ROR2 mutation
Authors:Brunetti-Pierri, Nicola; del Gaudio, Daniela; Peters, Hartmut; Justino, Henri; Ott, Claus-Eric; Mundlos, Stefan; Bacino, Carlos A.
Language:English
Research Context:Clinical Report
Date of Publication (YYYY-MM-DD):2008-10-01
Title of Journal:American Journal of Medical Genetics Part A
Journal Abbrev.:Am J Med Genet A
Volume:146A
Issue / Number:21
Start Page:2804
End Page:2809
Copyright:© 2009 Wiley-Liss, Inc., A Wiley Company
Review Status:not specified
Audience:Experts Only
Abstract / Description:Robinow syndrome comprises dysmorphic facial features, short stature, brachymesomelia, segmental spine defects, and genital hypoplasia. The range of severity in this disorder is broad. We report on the clinical and molecular findings of two sib pairs from the same extended family with Robinow syndrome due to a novel intragenic ROR2 deletion involving exons 6 and 7 that could not be detected by sequencing. The affected individuals exhibited variability with respect to the cleft lip, cleft palate, and cardiac findings and for the presence in one of the patients of syringomyelia, which has not been previously reported in Robinow syndrome
Free Keywords:Robinow syndrome • syringomyelia • ROR2 • intragenic deletion
Comment of the Author/Creator:email: Carlos A. Bacino (cbacino@bcm.edu)
Correspondence to Carlos A. Bacino, Department of Molecular and Human Genetics, Baylor College of Medicine, Texas Children's Hospital, Clinical Care Center 6701, Fannin, CC1560, Houston, TX 77030.
External Publication Status:published
Document Type:Article
Communicated by:Stefan Mundlos
Affiliations:MPI für molekulare Genetik
External Affiliations:1.Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA;
2.Institute for Medical Genetics, Charitè, Universitätsmedizin Berlin, Germany;
3.Department of Pediatric Cardiology, Baylor College of Medicine, Houston, Texas, USA.
Identifiers:URL:http://www3.interscience.wiley.com/cgi-bin/fulltex...
DOI:10.1002/ajmg.a.32530
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