Disorders


 

Brachydactyly, Type E2


 

OMIM

GeneLocusProtein
PTHLH12p12.1-p11.2Parathyroid hormone-related protein

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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