Disorders


 

Osteoglophonic Dysplasia


Synonym(s): Osteoglophonic Dwarfism

 

OMIM

GeneLocusProtein
FGFR18p12Fibroblast growth factor receptor 1

Laboratory Test Method Prenatal Carrier *
Center for Human Genetics - University of Regensburg, Hehr Laboratory - Regensburg, Germany• Sequence analysis of the entire coding region
 
Cologne University, Institute of Human Genetics - Cologne, Germany• Sequence analysis of the entire coding region
 
Shafallah Medical Genetics Center, SMGC Laboratory - Doha, Qatar• 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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