Biallelic loss of function variant in the unfolded protein response gene PDIA6 is associated with asphyxiating thoracic dystrophy and neonatal-onset diabetes

Fatima M. Al-Fadhli, Manal Afqi, Mona Hamza Sairafi, Makki Almuntashri, Essa Alharby, Ghadeer Alharbi, Firoz Abdud Samad, Jamil Amjad Hashmi, Dimah Zaytuni, Ahmed A. Bahashwan, Jin Huk Choi, Roy W.A. Peake, Bruce Beutler, Naif A.M. Almontashiri

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Medicine & Life Sciences