Genetic & Genomic MedicineHuman Genetics and Genomics AdvancesPeer-reviewed
Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects
Jessica X. Chong, Matthew Carter Childers, Colby T. Marvin…·Michael J. Bamshad
The paper identifies heterozygous missense variants in ACTC1 as the cause of distal arthrogryposis with congenital heart defects in five families.
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