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Radial Deficiency   |    
Genetics of Radial Deficiencies
Esther de Graaff, PhD1; Scott H. Kozin, MD2
1 Department of Clinical Genetics, Erasmus MC, P.O. Box 2040, 3000 CA Rotterdam, The Netherlands. E-mail address: e.degraaff@erasmusmc.nl
2 Shriners Hospital for Children, 3551 North Broad Street, Philadelphia, PA 19140-4131. E-mail address: skozin@shrinenet.org
View Disclosures and Other Information
Disclosure: The authors did not receive any outside funding or grants in support of their research for or preparation of this work. Neither they nor a member of their immediate families received payments or other benefits or a commitment or agreement to provide such benefits from a commercial entity.

The Journal of Bone and Joint Surgery, Inc.
J Bone Joint Surg Am, 2009 Jul 01;91(Supplement 4):81-86. doi: 10.2106/JBJS.I.00073
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Extract

More than 15% of the anomalies described in the London Dysmorphology Database are associated with various manifestations of radial longitudinal deficiency1. Their etiology may be genetic, environmental, or a combination of these factors. While most of the known inherited disorders are single-gene disorders, family members carrying the same mutation often show a range of phenotypes. This indicates that other genes and/or the environment play a large role in the phenotypic variability of radial longitudinal deficiency.
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