Disorders


 

Mulibrey Nanism


 

OMIM

GeneLocusProtein
TRIM3717qE3 ubiquitin-protein ligase TRIM37

Laboratory Test Method Prenatal Carrier *
HUSLAB, Laboratory of Genetics - Helsinki, Finland• Targeted mutation analysis
  
MEDGEN, Genetic Diagnostics Laboratory - Warsaw, Poland• Targeted mutation analysis
  
Medgene, MedGene - Bratislava, Slovakia  
Praxis fuer Humangenetik Wien - Vienna, Austria  

* 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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