Disorders


 

SMAD9-Related Heritable Pulmonary Arterial Hypertension


Synonym(s): SMAD9-Related PAH

 

OMIM

GeneLocusProtein
SMAD913q12-q14Mothers against decapentaplegic homolog 9

Laboratory Test Method Prenatal Carrier *
Addenbrooke's Hospital, Molecular Genetics Laboratory - Cambridge, Great Britain• 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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