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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. Nanni L, et al. Among authors: pierpont me. Hum Mol Genet. 1999 Dec;8(13):2479-88. doi: 10.1093/hmg/8.13.2479. Hum Mol Genet. 1999. PMID: 10556296
Clinical phenotype associated with terminal 2q37 deletion.
Conrad B, Dewald G, Christensen E, Lopez M, Higgins J, Pierpont ME. Conrad B, et al. Among authors: pierpont me. Clin Genet. 1995 Sep;48(3):134-9. doi: 10.1111/j.1399-0004.1995.tb04073.x. Clin Genet. 1995. PMID: 8556820 Review.
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