Further delineation of SMG9-related heart and brain malformation syndrome

Am J Med Genet A. 2021 May;185(5):1624-1630. doi: 10.1002/ajmg.a.62139. Epub 2021 Feb 20.

Authors

Norah Altuwaijri¹, Mona Abdelbaky², Amal Alhashem^{2

3}, Maha Alrakaf⁴, Mais Hashem¹, Fatema Alzahrani¹, Fowzan S Alkuraya^{1

2

3}

Affiliations

¹ Department of Translational Genomics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
² Department of Pediatrics, Prince Sultan Medical Military City, Riyadh, Saudi Arabia.
³ Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
⁴ Department of Obstetrics and Gynecology, Maternal fetal Medicine Division, Prince Sultan Medical Military City, Riyadh, Saudi Arabia.

PMID: 33609422
DOI: 10.1002/ajmg.a.62139

No abstract available

Publication types

Letter
Comment

MeSH terms

Abnormalities, Multiple*
Brain / diagnostic imaging
Child
Developmental Disabilities*
Genotype
Homozygote
Humans