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45. Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. Roessler E, Belloni E, Gaudenz K, Jay P, Berta P, Scherer SW, Tsui LC, Muenke M. Nat Genet; 1996 Nov; 14(3):357-60. PubMed ID: 8896572 [Abstract] [Full Text] [Related]
47. Disrupted Hypothalamo-Pituitary Axis in Association With Reduced SHH Underlies the Pathogenesis of NOTCH-Deficiency. Hamdi-Rozé H, Ware M, Guyodo H, Rizzo A, Ratié L, Rupin M, Carré W, Kim A, Odent S, Dubourg C, David V, de Tayrac M, Dupé V. J Clin Endocrinol Metab; 2020 Sep 01; 105(9):. PubMed ID: 32403133 [Abstract] [Full Text] [Related]
54. Wide phenotypic variability in families with holoprosencephaly and a sonic hedgehog mutation. Hehr U, Gross C, Diebold U, Wahl D, Beudt U, Heidemann P, Hehr A, Mueller D. Eur J Pediatr; 2004 Jul 01; 163(7):347-52. PubMed ID: 15107988 [Abstract] [Full Text] [Related]
57. Impact of Sonic Hedgehog-dependent sphenoid bone defect on craniofacial growth. Guyodo H, Rizzo A, Diab F, Noury F, Mironov S, de Tayrac M, David V, Odent S, Dubourg C, Dupé V. Clin Exp Dent Res; 2024 Apr 01; 10(2):e861. PubMed ID: 38558491 [Abstract] [Full Text] [Related]
58. Mutations in the BMP pathway in mice support the existence of two molecular classes of holoprosencephaly. Fernandes M, Gutin G, Alcorn H, McConnell SK, Hébert JM. Development; 2007 Nov 01; 134(21):3789-94. PubMed ID: 17913790 [Abstract] [Full Text] [Related]