Publication: Clinical and genetic heterogeneity in Meckel syndrome
Clinical and genetic heterogeneity in Meckel syndrome
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Paavola, P., Salonen, R., Baumer Wolz, A., Schinzel, A., Boyd, P. A., Gould, S., Meusburger, H., Tenconi, R., Barnicoat, A., Winter, R., & Peltonen, L. (1997). Clinical and genetic heterogeneity in Meckel syndrome. Human Genetics, 101, 88–92. https://doi.org/10.1007/s004390050592
Abstract
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Abstract
Meckel syndrome (MKS) is a lethal malformation syndrome characterised by posterior meningoencephalocele, polycystic kidneys, fibrotic changes of the liver, and polydactyly. We have previously shown a linkage to chromosome 17q in 17 Finnish Meckel families. In this study we have analysed one Italian, one Austrian (of Turkish origin) and three British MKS families (Caucasian, Pakistani, and Bangladeshi families) for linkage to the MKS locus on chromosome 17q22-q24. We did not observe co-segregation of the disease and marker haplotypes i
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- Paavola, Paulina
- Salonen, Riitta
- Schinzel, Albert
- Boyd, P A
- Gould, Steve
- Meusburger, H
- Tenconi, Romano
- Barnicoat, Angela
- Winter, Robin
- Peltonen, Leena
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Paavola, P., Salonen, R., Baumer Wolz, A., Schinzel, A., Boyd, P. A., Gould, S., Meusburger, H., Tenconi, R., Barnicoat, A., Winter, R., & Peltonen, L. (1997). Clinical and genetic heterogeneity in Meckel syndrome. Human Genetics, 101, 88–92. https://doi.org/10.1007/s004390050592
