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American Journal of Medical Genetics. Part A|October 11, 2025
The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome FeaturesNikole Rautiainen, Eveliina Brandt, Kaisa Kettunen, et al.
Frontiers in Cardiovascular Medicine|April 3, 2023
<i>DSP</i> c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratodermaKrista Heliö, Eveliina Brandt, Satu Vaara, et al.
Clinical and Experimental Dermatology|October 18, 2025
Desmoplakin-associated palmoplantar epidermal differentiation disorder: a distinct phenotype and red flag for cardiomyopathyEveliina Brandt, Krista Heliö, Liisa Harjama, et al.
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