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Previous Volume 346:128-130 January 10, 2002 Number 2 Next

	Since this article has no abstract, we have provided an extract of the first 100 words of the full text and any section headings.

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Important insights into the regulation of mineral-ion homeostasis, cartilage development, and thus bone growth have been obtained through the molecular definition of various genetic disorders. Several of these disorders, most of which are rare, are now known to be caused by mutations in a single gene, GNAS1, which gives rise to several different messenger RNA transcripts that are derived from the paternal allele, the maternal allele, or both and are either coding or noncoding. Because of this unusual complexity, GNAS1 mutations can lead to a variety of different phenotypic changes.

In 1942, Fuller Albright and his colleagues described a syndrome, . . . [Full Text of this Article]

References

Related Letters:

GNAS1 Mutations and Progressive Osseous Heteroplasia
Ahmed S. F., Barr D. G.D., Bonthron D. T., Farfel Z., Shore E. M., Kaplan F. S., Levine M. A., Bastepe M., Jüppner H.
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N Engl J Med 2002; 346:1669-1671, May 23, 2002. Correspondence

This article has been cited by other articles:

• Gimble, J. M., Katz, A. J., Bunnell, B. A. (2007). Adipose-Derived Stem Cells for Regenerative Medicine. Circ. Res. 100: 1249-1260 [Abstract] [Full Text]  
• Ahmed, S. F., Barr, D. G.D., Bonthron, D. T., Farfel, Z., Shore, E. M., Kaplan, F. S., Levine, M. A., Bastepe, M., Juppner, H. (2002). GNAS1 Mutations and Progressive Osseous Heteroplasia. NEJM 346: 1669-1671 [Full Text]