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.|
|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|
|Issue / Number:||21|
|Copyright:||© 2009 Wiley-Liss, Inc., A Wiley Company|
|Review Status:||not specified|
|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 (firstname.lastname@example.org)
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|
|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.
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