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Meckel syndrome
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References
These sources were used to develop the Genetics Home Reference
condition summary
on Meckel syndrome.
Logan CV, Abdel-Hamed Z, Johnson CA. Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defects. Mol Neurobiol. 2011 Feb;43(1):12-26. doi: 10.1007/s12035-010-8154-0. Epub 2010 Nov 27. Review.
PubMed citation
Salonen R, Kestilä M, Bergmann C. Clinical utility gene card for: Meckel syndrome. Eur J Hum Genet. 2011 Jul;19(7). doi: 10.1038/ejhg.2010.255. Epub 2011 Feb 2.
PubMed citation
Salonen R, Paavola P. Meckel syndrome. J Med Genet. 1998 Jun;35(6):497-501. Review.
PubMed citation
Tallila J, Salonen R, Kohlschmidt N, Peltonen L, Kestilä M. Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups? Hum Mutat. 2009 Aug;30(8):E813-30. doi: 10.1002/humu.21057.
PubMed citation
Reviewed: May 2012
Published: March 4, 2013