A homozygous nonsense mutation in DCBLD2 is a candidate cause of developmental delay, dysmorphic features and restrictive cardiomyopathy.
Scientific Reports
Alhamoudi, Kheloud M KM; Barhoumi, Tlili T; Al-Eidi, Hamad H; Asiri, Abdulaziz A; Nashabat, Marwan M; Alaamery, Manal M; Alharbi, Masheal M; Alhaidan, Yazeid Y; Tabarki, Brahim B; Umair, Muhammad M; Alfadhel, Majid M