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A novel homozygous RIPK4 variant in a family with severe Bartsocas-Papas syndrome
Dinçer, Tuba; Gümüş, Evren; Toraman, Bayram; İdris, Er; Yıldız, Gökhan; Yüksel, Zafer; Kalay, Ersan (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 ...