Disorders


 

Lethal Restrictive Dermopathy, ZMPSTE24-Related


Synonym(s): Hyperkeratosis-Contracture Syndrome, ZMPSTE24-Related, Lethal Tight Skin Contracture Syndrome, ZMPSTE24-Related

 

OMIM

GeneLocusProtein
ZMPSTE241p34CAAX prenyl protease 1 homolog

Laboratory Test Method Prenatal Carrier *
Center for Human Genetics - University of Regensburg, Hehr Laboratory - Regensburg, Germany  
Centogene AG, Rare Disease Company - Rostock, Germany  
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA  
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany  
Maastricht University Medical Centre, Clinical Genomics - Maastricht, Netherlands  
Medical Neurogenetics - Atlanta, GA, USA  
Novogenia - Mondsee, Austria  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA  
Royal Devon and Exeter Hospital, Department of Molecular Genetics - Exeter, Great Britain  
Sir Ganga Ram Hospital, Center of Medical Genetics - New Delhi, India• Sequence analysis of select exons
• Targeted mutation analysis
  
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA  
University of Greifswald, Institute of Human Genetics - Greifswald, Germany  

* 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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