Disorders


 

Winchester Syndrome


 

OMIM

GeneLocusProtein
MMP216q13-q2172 kDa type IV collagenase

Laboratory Test Method Prenatal Carrier *
Centre for Clinical Research - University of Queensland, Bone Dysplasia Research Group - Brisbane, Australia• Sequence analysis of the entire coding region
 
University of Lausanne, Division of Molecular Pediatrics - Lausanne, Switzerland• Sequence analysis of the entire coding region
 

* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.

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