Severe mental retardation in a young boy with an in-frame deletion in the dystrophin gene
in: European journal of pediatrics , ISSN 1432-1076, Vol. 153 (7. 1994), p. 492-494 Zugang:
zum Volltext ähnliche Vorschläge
1994
Abstract We report here a mentally retarded 32-month-old boy whose initial diagnosis was Angelman syndrome based on his clinical features. Cytogenetic studies showed a normal karyotype. Due to an elevated level of serum creatine kinase activity, we performed analyses to rule out a myopathic... mehr
Copyright: Copyright 1994 Springer-Verlag Berlin Heidelberg mehr
Severe mental retardation in a young boy with an in-frame deletion in the dystrophin gene
in: European journal of pediatrics , ISSN 1432-1076, Vol. 153 (7. 1994), p. 492-494 Zugang:
zum Volltext ähnliche Vorschläge
1994
Abstract We report here a mentally retarded 32-month-old boy whose initial diagnosis was Angelman syndrome based on his clinical features. Cytogenetic studies showed a normal karyotype. Due to an elevated level of serum creatine kinase activity, we performed analyses to rule out a myopathic... mehr
Fourth metting of the European Neurological Society 25–29 June 1994 Barcelona, Spain
in: Journal of neurology , ISSN 1432-1459, Vol. 241 (1. 1994), p. 1-164 Zugang:
zum Volltext ähnliche Vorschläge