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2. Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations. Dubourg C, Lazaro L, Pasquier L, Bendavid C, Blayau M, Le Duff F, Durou MR, Odent S, David V. Hum Mutat; 2004 Jul; 24(1):43-51. PubMed ID: 15221788 [Abstract] [Full Text] [Related]
12. [Genetic study of holoprosencephaly]. Dubourg C, Lazaro L, Blayau M, Pasquier L, Durou MR, Odent S, David V. Ann Biol Clin (Paris); 2003 Mar; 61(6):679-87. PubMed ID: 14711609 [Abstract] [Full Text] [Related]
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14. Holoprosencephaly-Polydactyly syndrome: in search of an etiology. Cordero DR, Bendavid C, Shanske AL, Haddad BR, Muenke M. Eur J Med Genet; 2008 Feb 15; 51(2):106-12. PubMed ID: 18178536 [Abstract] [Full Text] [Related]
15. 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 15; 26(3):226-30. PubMed ID: 16475235 [Abstract] [Full Text] [Related]
18. SONIC HEDGEHOG mutations causing human holoprosencephaly impair neural patterning activity. Schell-Apacik C, Rivero M, Knepper JL, Roessler E, Muenke M, Ming JE. Hum Genet; 2003 Jul 15; 113(2):170-7. PubMed ID: 12709790 [Abstract] [Full Text] [Related]
19. Expression of the Sonic hedgehog (SHH ) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly. Odent S, Atti-Bitach T, Blayau M, Mathieu M, Aug J, Delezo de AL, Gall JY, Le Marec B, Munnich A, David V, Vekemans M. Hum Mol Genet; 1999 Sep 15; 8(9):1683-9. PubMed ID: 10441331 [Abstract] [Full Text] [Related]