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6. Multicolour FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotype. Bendavid C, Haddad BR, Griffin A, Huizing M, Dubourg C, Gicquel I, Cavalli LR, Pasquier L, Shanske AL, Long R, Ouspenskaia M, Odent S, Lacbawan F, David V, Muenke M. J Med Genet; 2006 Jun; 43(6):496-500. PubMed ID: 16199538 [Abstract] [Full Text] [Related]
13. Holoprosencephaly-Polydactyly syndrome: in search of an etiology. Cordero DR, Bendavid C, Shanske AL, Haddad BR, Muenke M. Eur J Med Genet; 2008 Jun; 51(2):106-12. PubMed ID: 18178536 [Abstract] [Full Text] [Related]
14. A novel heterozygous missense mutation 377T > C (V126A) of TGIF gene in a family segregated with holoprosencephaly and moyamoya disease. Chen M, Kuo SJ, Liu CS, Chen WL, Ko TM, Chen TH, Chang SP, Huang CH, Chang YY, Wang BT. Prenat Diagn; 2006 Mar; 26(3):226-30. PubMed ID: 16475235 [Abstract] [Full Text] [Related]
17. Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. Wallis DE, Roessler E, Hehr U, Nanni L, Wiltshire T, Richieri-Costa A, Gillessen-Kaesbach G, Zackai EH, Rommens J, Muenke M. Nat Genet; 1999 Jun; 22(2):196-8. PubMed ID: 10369266 [Abstract] [Full Text] [Related]
19. Loss of Tgif function causes holoprosencephaly by disrupting the SHH signaling pathway. Taniguchi K, Anderson AE, Sutherland AE, Wotton D. PLoS Genet; 2012 Jun; 8(2):e1002524. PubMed ID: 22383895 [Abstract] [Full Text] [Related]