Clinical Genetics · 1988 · 45 citations · 15 references
Life SciencesGeneticsPediatricsFamily StudiesHuman GeneticsPediatric GeneticsCongenital DisordersCongenital MalformationsGenetic DisordersGenetic SyndromesMendelian DisordersCoffin-lowry SyndromeCongenital Craniofacial Anomalies GeneticsCongenital Skeletal DisordersFamilial Inheritance PatternsFamilial Syndromes
The Coffin-Lowry syndrome is an inherited syndrome of mental retardation, characteristic facies and skeletal anomalies. The occurrence of severe manifestations in males, with no instance of male-to-male transmission, suggests an X-linked inheritance. The paper describes seven families from five European Centers.
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