Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the <it>EVC </it>gene

• Main Authors: Cockerham John (Author), Sapp Julie C (Author), Gül Davut (Author), Ulucan Hakan (Author), Johnston Jennifer J (Author), Biesecker Leslie G (Author)
• Format: Book
• Published: BMC, 2008-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>Ellis-van Creveld (EvC) syndrome is characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth and is inherited in an autosomal recessive pattern. We report a family with complex septal cardiac defect...