TY  - JOUR 
AU  - Szulik, M.W.
AU  - Reyes-Múgica, M.
AU  - Marker, D.F.
AU  - Gomez, A.M.
AU  - Zinn, M.D.
AU  - Walsh, L.K.
AU  - Ochoa, Juan Pablo
AU  - Franklin, S.
AU  - Ghaloul-Gonzalez, L.
PY  - 2023
SN  - 2073-4425
UR  - http://hdl.handle.net/20.500.11940/21588
AB  - Mutations in cardiac genes are one of the primary causes of infantile cardiomyopathy. In this study, we report the genetic findings of two siblings carrying variations in the MYBPC3 and SMYD1 genes. The first patient is a female proband exhibiting...
LA  - eng
KW  - Adult
KW  - Female
KW  - Humans
KW  - Infant
KW  - Male
KW  - Cardiomyopathy, Hypertrophic
KW  - Carrier Proteins
KW  - Cytoskeletal Proteins
KW  - DNA-Binding Proteins
KW  - Heart Failure
KW  - Muscle Proteins
KW  - Mutation
KW  - Transcription Factors
TI  - Identification of Two Homozygous Variants in MYBPC3 and SMYD1 Genes Associated with Severe Infantile Cardiomyopathy
DO  - 10.3390/genes14030659
T2  - Genes
KW  - INIBIC
VL  - 14
ER  -