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Aldinger KA, Mendelsohn NJ, Chung BH, Zhang W, Cohn DH, Fernandez B, Alkuraya FS, Dobyns WB, Curry CJ. Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive <i>WNT1<\/i> mutations. J Med Genet. 2016; 53:427-430.","DOI":"10.1136\/jmedgenet-2015-103476"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Chen P, Chen J, Yang Z, Lu Y, Shen L, Zhou K, Ye S, Shen B. Consanguineous-derived homozygous <i>WNT1<\/i> mutation results in osteogenesis imperfect with congenital ptosis and exotropia. Mol Genet Genomic Med. 2020; 8:e1350.","DOI":"10.1002\/mgg3.1350"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Nampoothiri S, Guillemyn B, Elcioglu N, Jagadeesh S, Yesodharan D, Suresh B, Turan S, Symoens S, Malfait F. Ptosis as a unique hallmark for autosomal recessive <i>WNT1<\/i>-associated osteogenesis imperfecta. 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