Ara
Toplam kayıt 2, listelenen: 1-2
A novel homozygous RIPK4 variant in a family with severe Bartsocas-Papas syndrome
(Wiley, 2021)
Bartsocas-Papas syndrome (BPS) is a rare autosomal recessive disorder characterized by popliteal pterygia, syndactyly, ankyloblepharon, filiform bands between the jaws, cleft lip and palate, and genital malformations. Most ...
Response to Letter to the Editor: "Atrioventricular canal defect is an infrequent congenital heart disease that can be observed in Bardet-Biedl syndrome"
(Wiley, 2021)
Response to Letter to the Editor