Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features.

Bianca E RussellDiana RigueurKathryn N WeaverKristen SundJanet S BasilRobert B HufnagelCynthia A ProwsAlan OestreichLihadh Al-GazaliRobert J HopkinHoward M SaalKaren LyonsAndrew Dauber

Published in: Molecular genetics & genomic medicine (2019)

This homozygous missense variant in BMPR1A appears to cause a distinct clinical phenotype.

Keyphrases

pulmonary arterial hypertension
intellectual disability
autism spectrum disorder
pulmonary hypertension