PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature

Overview of attention for article published in American Journal of Medical Genetics. Part A, February 2022

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RT @HTChaoLab: Proud mentor moment. Kudos BCM MSTP and GG grad student @ChristinaMagyar! Her first author paper with @UDNconnect, @bcmgenet…

Proud mentor moment. Kudos BCM MSTP and GG grad student @ChristinaMagyar! Her first author paper with @UDNconnect, @bcmgenetics, and Duncan NRI @TCHResearchNews on PRUNE1 DHHA2 domain in NMIHBA syndrome is published today at AJMG part A. #Rarediseases h…

RT @UDNconnect: New by our colleagues at @BaylorGenetics! "PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 d…

New by our colleagues at @BaylorGenetics! "PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature" https://t.co/G1SVzUWJUW

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