Disorders


 

Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss


 

OMIM

GeneLocusProtein
FKBP147p15Peptidyl-prolyl cis-trans isomerase FKBP14

Laboratory Test Method Prenatal Carrier *
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany• 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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