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

• Prif Awduron: Cockerham John (Awdur), Sapp Julie C (Awdur), Gül Davut (Awdur), Ulucan Hakan (Awdur), Johnston Jennifer J (Awdur), Biesecker Leslie G (Awdur)
• Fformat: Llyfr
• Cyhoeddwyd: BMC, 2008-10-01T00:00:00Z.
• Pynciau: article
• Mynediad Ar-lein: 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...