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References

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

Dagoneau N, Benoist-Lasselin C, Huber C, Faivre L, Mégarbané A, Alswaid A, Dollfus H, Alembik Y, Munnich A, Legeai-Mallet L, Cormier-Daire V. ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. Am J Hum Genet. 2004 Nov;75(5):801-6. Epub 2004 Sep 13. PubMed citation
Evereklioglu C, Hepsen IF, Er H. Weill-Marchesani syndrome in three generations. Eye (Lond). 1999 Dec;13 ( Pt 6):773-7. Review. PubMed citation
Faivre L, Dollfus H, Lyonnet S, Alembik Y, Mégarbané A, Samples J, Gorlin RJ, Alswaid A, Feingold J, Le Merrer M, Munnich A, Cormier-Daire V. Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome. Am J Med Genet A. 2003 Dec 1;123A(2):204-7. Review. PubMed citation
Faivre L, Gorlin RJ, Wirtz MK, Godfrey M, Dagoneau N, Samples JR, Le Merrer M, Collod-Beroud G, Boileau C, Munnich A, Cormier-Daire V. In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. J Med Genet. 2003 Jan;40(1):34-6. PubMed citation
Gene Review: Weill-Marchesani Syndrome
Kojuri J, Razeghinejad MR, Aslani A. Cardiac findings in Weill-Marchesani syndrome. Am J Med Genet A. 2007 Sep 1;143A(17):2062-4. PubMed citation
Kutz WE, Wang LW, Dagoneau N, Odrcic KJ, Cormier-Daire V, Traboulsi EI, Apte SS. Functional analysis of an ADAMTS10 signal peptide mutation in Weill-Marchesani syndrome demonstrates a long-range effect on secretion of the full-length enzyme. Hum Mutat. 2008 Dec;29(12):1425-34. doi: 10.1002/humu.20797. PubMed citation

Reviewed: October 2008

Published: May 13, 2013