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References

These sources were used to develop the Genetics Home Reference condition summary on Langer-Giedion syndrome.

Hilton MJ, Sawyer JM, Gutiérrez L, Hogart A, Kung TC, Wells DE. Analysis of novel and recurrent mutations responsible for the tricho-rhino-phalangeal syndromes. J Hum Genet. 2002;47(3):103-6. PubMed citation
Riedl S, Giedion A, Schweitzer K, Müllner-Eidenböck A, Grill F, Frisch H, Lüdecke HJ. Pronounced short stature in a girl with tricho-rhino-phalangeal syndrome II (TRPS II, Langer-Giedion syndrome) and growth hormone deficiency. Am J Med Genet A. 2004 Dec 1;131(2):200-3. PubMed citation
Shanske AL, Patel A, Saukam S, Levy B, Lüdecke HJ. Clinical and molecular characterization of a patient with Langer-Giedion syndrome and mosaic del(8)(q22.3q24.13). Am J Med Genet A. 2008 Dec 15;146A(24):3211-6. doi: 10.1002/ajmg.a.32615. PubMed citation

Reviewed: February 2009

Published: May 13, 2013