Jones, Gabriela

Somatic mosaicism in ACVRL1 with transmission to several offspring affected with severe pulmonary arterial hypertension. [electronic resource] - American journal of medical genetics. Part A Aug 2014 - 2121-3 p. digital

Publication Type: Case Reports; Journal Article

1552-4833

10.1002/ajmg.a.36568 doi


Activin Receptors, Type II--genetics
Adolescent
Fatal Outcome
Female
Humans
Hypertension, Pulmonary--diagnosis
Mosaicism
Mutation
Severity of Illness Index
Young Adult