Mosaic RAI1 variant in a Smith-Magenis syndrome patient with total anomalous pulmonary venous return

Am J Med Genet A. 2022 Oct;188(10):3130-3134. doi: 10.1002/ajmg.a.62907. Epub 2022 Jul 14.

Authors

Yukiko Kuroda¹, Alyssa Ritter¹, Sureni V Mullegama², Kosuke Izumi¹

Affiliations

¹ Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
² GeneDx, Gaithersburg, Maryland, USA.

PMID: 35833697
DOI: 10.1002/ajmg.a.62907

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Chromosomes, Human, Pair 17
Humans
Scimitar Syndrome* / genetics
Smith-Magenis Syndrome*
Trans-Activators / genetics
Transcription Factors / genetics

Substances

Trans-Activators
Transcription Factors