PMID: 9429143Jan 16, 1998Paper

Genetic heterogeneity of Meckel syndrome

Journal of Medical Genetics
J RoumeA Munnich

Abstract

Meckel syndrome (MKS) is a lethal, autosomal recessive condition characterised by an occipital meningoencephalocele, enlarged kidneys with multicystic dysplasia, fibrotic changes of the liver in the portal area with ductal proliferation, and postaxial polydactyly. Recently, a MKS gene has been mapped to chromosome 17q21-q24 in Finnish families, with no evidence of locus heterogeneity in this population. Here, we report the exclusion of chromosome 17q21-q24 in eight typical MKS families of North African and Middle Eastern ancestry and provide evidence for genetic heterogeneity of this condition.

References

Nov 1, 1990·Journal of Neuropathology and Experimental Neurology·M Ahdab-Barmada, D Claassen
Jan 1, 1987·American Journal of Medical Genetics. Supplement·T A BlankenbergJ E Dimmick
Aug 1, 1984·American Journal of Medical Genetics·R Salonen
Aug 1, 1984·American Journal of Medical Genetics·R Salonen, R Norio
Jun 1, 1984·Proceedings of the National Academy of Sciences of the United States of America·G M LathropJ Ott

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Citations

Nov 5, 1999·APMIS : Acta Pathologica, Microbiologica, Et Immunologica Scandinavica·K W KjaerI Kjaer
Jun 27, 1998·Journal of Medical Genetics·R Salonen, P Paavola
May 15, 2003·Journal of Medical Genetics·C A JohnsonC Sergi
Mar 8, 2005·Dyslexia : the Journal of the British Dyslexia Association·Salim Abu-Rabia, Lateefeh Maroun
Apr 15, 1999·Current Opinion in Pediatrics·F Hildebrandt

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