• An apparently new autosomal recessive syndrome with facial dysmorphism, macrocephaly, myopia and Dandy-Walker malformation
• Apparently new autosomal recessive syndrome of mental retardation, distal limb deficiencies, oral involvement, and possible renal defect
• Chromosome X-linked mental retardation and marfanoid syndrome
• Corpus callosum agenesis, spastic quadriparesis and irregular lining of the lateral ventricles on CT-scan. A distinct X-linked mental retardation syndrome?
• Distal 11q monosomy. The typical 11q monosomy syndrome is due to deletion of subband 11q24.1
• Psychopathology in the Lujan-Fryns syndrome: report of two patients and review
• Ring chromosome 15 syndrome. Further delineation of the adult phenotype
• Scalp defect associated with postaxial polydactyly: confirmation of a distinct entity with autosomal dominant inheritance
• Trisomy (18q) and tetrasomy (18p) resulting from isochromosome formation
• X-linked mental retardation with marfanoid habitus
• X-linked mental retardation with marfanoid habitus: first report of four Italian patients