Transmembrane protein 53 craniotubular dysplasia (OMIM # 619727): The skeletal disease and consequent blindness of this new disorder.
Whyte MP, Weinstein RS, Phillips PH, McAlister WH, Ramakrishnaiah RH, Schaefer GB, Cai R, Hutchison MR, Duan S, Gottesman GS, Mumm S. Transmembrane protein 53 craniotubular dysplasia (OMIM # 619727): The skeletal disease and consequent blindness of this new disorder. Bone. 2024 Nov; 188:117218.