Human geneticists have been on a long joyride. The power ofcontemporary genetics and genomics has allowed us to identifythe specific causal gene in a dizzying variety of mendelian(single-gene) and chromosomal disorders that affect every singlehuman organ system.1 This information has transformed our knowledgeof the pathophysiology of genetic diseases in humans, includingcleft lip with or without involvement of the palate.
Three specific genes are known to harbor mutations that leadto cleft lip or palate and additional anomalies: MSX1 (alsoknown as HOX7), which encodes muscle-segmentspecifichomeobox 12; FGFR1, which encodes fibroblast growth . . . [Full Text of this Article]
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From the McKusickNathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore.
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