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Editorial
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Volume 351:822-824 August 19, 2004 Number 8
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Finding Needles in Haystacks — IRF6 Gene Variants in Isolated Cleft Lip or Cleft Palate
Aravinda Chakravarti, Ph.D.

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-Related Article
 by Zucchero, T. M.
-PubMed Citation
Human geneticists have been on a long joyride. The power of contemporary genetics and genomics has allowed us to identify the specific causal gene in a dizzying variety of mendelian (single-gene) and chromosomal disorders that affect every single human organ system.1 This information has transformed our knowledge of the pathophysiology of genetic diseases in humans, including cleft lip with or without involvement of the palate.

Three specific genes are known to harbor mutations that lead to cleft lip or palate and additional anomalies: MSX1 (also known as HOX7), which encodes muscle-segment–specific homeobox 12; FGFR1, which encodes fibroblast growth . . . [Full Text of this Article]


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From the McKusick–Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore.


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