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6. A case of Walker-Warburg syndrome resulting from a homozygous POMT1 mutation. Yis U, Uyanik G, Kurul S, Dirik E, Ozer E, Gross C, Hehr U. Eur J Paediatr Neurol; 2007 Jan; 11(1):46-9. PubMed ID: 17161965 [Abstract] [Full Text] [Related]
7. Walker-Warburg syndrome diagnosed by findings of typical ocular abnormalities on prenatal ultrasound. Brasseur-Daudruy M, Vivier PH, Ickowicz V, Eurin D, Verspyck E. Pediatr Radiol; 2012 Apr; 42(4):488-90. PubMed ID: 22002842 [Abstract] [Full Text] [Related]
8. Fukuyama-type congenital muscular dystrophy and the Walker-Warburg syndrome. Kimura S, Sasaki Y, Kobayashi T, Ohtsuki N, Tanaka Y, Hara M, Miyake S, Yamada M, Iwamoto H, Misugi N. Brain Dev; 1993 Apr; 15(3):182-91. PubMed ID: 8214343 [Abstract] [Full Text] [Related]
14. Walker-Warburg syndrome. Report of two cases. Vasconcelos MM, Guedes CR, Domingues RC, Vianna RN, Sotero M, Vieira MM. Arq Neuropsiquiatr; 1999 Sep; 57(3A):672-7. PubMed ID: 10667295 [Abstract] [Full Text] [Related]
15. [A patient of Walker-Warburg syndrome with a haplotype different from that in Fukuyama-type congenital muscular dystrophy]. Sasaki M, Kondo E, Yamashita Y, Toda T, Nonaka I. No To Hattatsu; 1999 Sep; 31(5):445-51. PubMed ID: 10487070 [Abstract] [Full Text] [Related]
16. Nystagmus associated with macular dysplasia. Wang FB. Strabismus; 2020 Mar; 28(1):17-19. PubMed ID: 31566469 [Abstract] [Full Text] [Related]
17. POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. van Reeuwijk J, Janssen M, van den Elzen C, Beltran-Valero de Bernabé D, Sabatelli P, Merlini L, Boon M, Scheffer H, Brockington M, Muntoni F, Huynen MA, Verrips A, Walsh CA, Barth PG, Brunner HG, van Bokhoven H. J Med Genet; 2005 Dec; 42(12):907-12. PubMed ID: 15894594 [Abstract] [Full Text] [Related]
18. Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders. Geis T, Rödl T, Topaloğlu H, Balci-Hayta B, Hinreiner S, Müller-Felber W, Schoser B, Mehraein Y, Hübner A, Zirn B, Hoopmann M, Reutter H, Mowat D, Schuierer G, Schara U, Hehr U, Kölbel H. Orphanet J Rare Dis; 2019 Jul 16; 14(1):179. PubMed ID: 31311558 [Abstract] [Full Text] [Related]