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The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.
Hum Mol Genet. 1999 Dec;8(13):2479-88. doi: 10.1093/hmg/8.13.2479.
Hum Mol Genet. 1999.
PMID: 10556296
Multiple hits during early embryonic development: digenic diseases and holoprosencephaly.
Ming JE, Muenke M.
Ming JE, et al.
Am J Hum Genet. 2002 Nov;71(5):1017-32. doi: 10.1086/344412. Epub 2002 Oct 22.
Am J Hum Genet. 2002.
PMID: 12395298
Free PMC article.
Review.
No abstract available.
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