Genetic heterogeneity in Schwartz-Jampel syndrome: two families with neonatal Schwartz-Jampel syndrome do not map to human chromosome 1p34-p36.1.

Author:

Brown K A,al-Gazali L I,Moynihan L M,Lench N J,Markham A F,Mueller R F

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference19 articles.

1. Myotonia, dwarfism, diffuse bone disease and unusual ocular and facial abnormalities (a new syndrome);Aberfeld, D.C.; Hinterbuchner, L.P.; Schneider, M.;Brain,1965

2. Chondrodystrophic myotonia: report of two cases;Aberfeld, D.C.; Namba, T.; Vye, M.V.; Grobe, D.;Arch Neurol,1970

3. SchwartzJampel syndrome in two daughters of first cousins;Pavon, L.; Mollica, F.; Grasso, A.; Cao, A.; Gullotta, F.;J Neurol Neurosurg Psychiatry,1978

4. The Schwartz-Jampel syndrome in Southern Africa;Beighton, P.;Clin Genet,1973

5. Prenatal diagnosis of Schwartz-Jampel syndrome with early manifestation;Hunziker, U.R.S.A.; Savoldelli, G.; Boltshauser, E.; Giedion, A.; Schinzel, A.,1989

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