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3. Holoprosencephaly and cleidocranial dysplasia in a patient due to two position-effect mutations: case report and review of the literature. Fernandez BA; Siegel-Bartelt J; Herbrick JA; Teshima I; Scherer SW Clin Genet; 2005 Oct; 68(4):349-59. PubMed ID: 16143022 [TBL] [Abstract][Full Text] [Related]
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8. Genetic approaches to understanding brain development: holoprosencephaly as a model. Muenke M; Cohen MM Ment Retard Dev Disabil Res Rev; 2000; 6(1):15-21. PubMed ID: 10899793 [TBL] [Abstract][Full Text] [Related]
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11. Molecular cytogenetic analysis of patients with holoprosencephaly and structural rearrangements of 7q. Vance GH; Nickerson C; Sarnat L; Zhang A; Henegariu O; Morichon-Delvallez N; Butler MG; Palmer CG Am J Med Genet; 1998 Feb; 76(1):51-7. PubMed ID: 9508065 [TBL] [Abstract][Full Text] [Related]
12. Sonic hedgehog signal peptide mutation in a patient with holoprosencephaly. Kato M; Nanba E; Akaboshi S; Shiihara T; Ito A; Honma T; Tsuburaya K; Hayasaka K Ann Neurol; 2000 Apr; 47(4):514-6. PubMed ID: 10762164 [TBL] [Abstract][Full Text] [Related]
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15. 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 [TBL] [Abstract][Full Text] [Related]
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18. 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 [TBL] [Abstract][Full Text] [Related]
19. De novo 7q36 deletion: breakpoint analysis and types of holoprosencephaly. Frints SG; Schoenmakers EF; Smeets E; Petit P; Fryns JP Am J Med Genet; 1998 Jan; 75(2):153-8. PubMed ID: 9450876 [TBL] [Abstract][Full Text] [Related]