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 QRICH1 Gene

22 May 2023 : Case report Latvia

Diagnostic / therapeutic accidents, Rare disease, Educational Purpose (only if useful for a systematic review or synthesis)

Marija Roddate^1ABCDEF*, Gita Tauriņa^2BCDE, Vladimirs Krutovs^3EF, Dmitrijs Rots^4CD, Viktorija Kēniņa^45ABCD

DOI: 10.12659/AJCR.939217

Am J Case Rep 2023; 24:e939217

Background Case Reports Discussion Conclusions References:

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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*).

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