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Prenatal diagnosis in Coffin-Lowry syndrome demonstrates germinal mosaicism confirmed by mutation analysis.
Horn, D., Delaunoy, J.P. and Kunze, J.
Prenatal Diagnosis 21 : 881-884. 1 January 2001

Prenatal diagnosis of the acute form of proximal spinal muscular atrophy: experience on the acceptance of linkage analyses by the families.
Huschenbett, J., Hanke, R., Pfeifer, L. and Speer, A.
Prenatal Diagnosis 13 : 643-649. 1 January 1993