Fraser Syndrome 2
Search For A Disorder
References
Shafeghati Y, Kniepert A, Vakili G, Zenker M. Fraser syndrome due to homozygosity for a splice site mutation of FREM2. Am J Med Genet A. 2008 Feb
15;146A(4):529-31.
PubMedID: 18203166
van Haelst MM, Maiburg M, Baujat G, Jadeja S, Monti E, Bland E, Pearce K; Fraser Syndrome Collaboration Group, Hennekam RC, Scambler PJ. Molecular study of 33 families with Fraser syndrome new data and mutation review. Am J Med Genet A. 2008 Sep 1;146A(17):2252-7.
PubMedID: 18671281
Jadeja S, Smyth I, Pitera JE, Taylor MS, van Haelst M, Bentley E, McGregor L, Hopkins J, Chalepakis G, Philip N, Perez Aytes A, Watt FM, Darling SM, Jackson I, Woolf AS, Scambler PJ. Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs. Nat Genet. 2005 May;37(5):520-5.
PubMedID: 15838507