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 (Bone, 2024)