Article
An Irish three-generation family of Cornelia de Lange syndrome displaying autosomal dominant inheritance.
Clinical dysmorphology - 1 Oct 2003
McConnell V, Brown T, Morrison P J
Abstract excerpt
The existence of familial de Lange syndrome has been documented in sibs and in parent-child families, but the inheritance pattern continues to be the cause of much debate. We describe a classically affected neonate with de Lange syndrome, an affected mother and probably affected maternal grandmot...
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