22 May 2023>: Articles
Mother and Daughter with Short Stature, Microcephaly, Mild Dysmorphic Features, and Learning Disabilities Due to Ververi-Brady Syndrome Associated with a New Variant of the Gene
Diagnostic / therapeutic accidents, Rare disease, Educational Purpose (only if useful for a systematic review or synthesis)
Marija Roddate A* , Gita Tauriņa B , Vladimirs Krutovs E , Dmitrijs Rots C , Viktorija Kēniņa ADOI: 10.12659/AJCR.939217
Am J Case Rep 2023; 24:e939217
Figure 1. Family tree. A) The proband (case 1). B) The proband’s mother (case 2). E=nonsense variant NM_017730.3: c.337C>T; p.(Gln113*).