Konu "Bartsocas-Papas syndrome" için Dahili Tıp Bilimleri Bölümü Koleksiyonu listeleme
Toplam kayıt 1, listelenen: 1-1
-
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 ...