A homozygous nonsense mutation in DCBLD2 is a candidate cause of developmental delay, dysmorphic features and restrictive cardiomyopathy

por Kheloud M. Alhamoudi, Tlili Barhoumi, Hamad Al-Eidi, Abdulaziz Asiri, Marwan Nashabat, Manal Alaamery, Masheal Alharbi, Yazeid Alhaidan, Brahim Tabarki, Muhammad Umair, Majid Alfadhel
Publicado 2021