Disorders


 

Stiff Skin Syndrome


Synonym(s): SSKS

 

OMIM

GeneLocusProtein
FBN115q21.1Fibrillin-1

Laboratory Test Method Prenatal Carrier *
Health in Code S.L. - A Coruña, Spain  
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, 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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