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Somatic mosaicism in ACVRL1 with transmission to several offspring affected with severe pulmonary arterial hypertension.

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

ISSN: 1552-4833

Standard No.: 10.1002/ajmg.a.36568 doi

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

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