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7. Recent advances in understanding inheritance of holoprosencephaly. Dubourg C, Kim A, Watrin E, de Tayrac M, Odent S, David V, Dupé V. Am J Med Genet C Semin Med Genet; 2018 Jun; 178(2):258-269. PubMed ID: 29785796 [Abstract] [Full Text] [Related]
9. The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly. Nanni L, Ming JE, Bocian M, Steinhaus K, Bianchi DW, Die-Smulders C, Giannotti A, Imaizumi K, Jones KL, Campo MD, Martin RA, Meinecke P, Pierpont ME, Robin NH, Young ID, Roessler E, Muenke M. Hum Mol Genet; 1999 Dec; 8(13):2479-88. PubMed ID: 10556296 [Abstract] [Full Text] [Related]
16. Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly. Ming JE, Kaupas ME, Roessler E, Brunner HG, Golabi M, Tekin M, Stratton RF, Sujansky E, Bale SJ, Muenke M. Hum Genet; 2002 Apr; 110(4):297-301. PubMed ID: 11941477 [Abstract] [Full Text] [Related]
17. Extreme variability of expression of a Sonic Hedgehog mutation: attention difficulties and holoprosencephaly. Heussler HS, Suri M, Young ID, Muenke M. Arch Dis Child; 2002 Apr; 86(4):293-6. PubMed ID: 11919111 [Abstract] [Full Text] [Related]
19. Holoprosencephaly. Dubourg C, Bendavid C, Pasquier L, Henry C, Odent S, David V. Orphanet J Rare Dis; 2007 Feb 02; 2():8. PubMed ID: 17274816 [Abstract] [Full Text] [Related]
20. Cdon mutation and fetal ethanol exposure synergize to produce midline signaling defects and holoprosencephaly spectrum disorders in mice. Hong M, Krauss RS. PLoS Genet; 2012 Feb 02; 8(10):e1002999. PubMed ID: 23071453 [Abstract] [Full Text] [Related] Page: [Next] [New Search]