Compound Heterozygosity for Late-Onset Cardiomyopathy-Causative ALPK3 Coding Variant and Novel Intronic Variant Cause Infantile Hypertrophic Cardiomyopathy
Tomer Poleg, Marina Eskin‐Schwartz, Regina Proskorovski‐Ohayon, Ilana Aminov, Vadim Dolgin, Nadav Agam, Matan M. Jean, Amit Safran, Ofek Freund, Aviva Levitas, Yuval Konstantino, Ohad S. Birk, Roi Westreich, Moti Haim
Topics & Concepts
Loss of heterozygosityPenetranceHypertrophic cardiomyopathyNoonan syndromeGeneticsCompound heterozygosityCardiomyopathyBiologyMutationMedicinePhenotypeInternal medicineHeart failureAlleleGeneCardiomyopathy and Myosin StudiesProtein Tyrosine PhosphatasesGalectins and Cancer Biology