Chahira Kozma

TL;DR: The first five cases of a new recessive bone disorder resulting from null LEPRE1 alleles are presented; its phenotype overlaps with lethal/severe osteogenesis imperfecta but has distinctive features and a mutant allele from West Africa occurs in four of five cases.

TL;DR: In a study of the perceptions of 332 members of genetic support groups with one or more of 101 different genetic disorders in the family, it was found that as a result of a genetic disorder 25 percent of the respondents or affected family members believed they were refused life insurance, and 13 percent thought they were denied or let go from a job.

TL;DR: Spectral karyotyping (SKY) as discussed by the authors is based on the simultaneous hybridization of 24 chromosome-specific painting probes labeled with different fluorochromes or fluorochrome combinations.

TL;DR: Dwarfs were accepted in ancient Egypt; their recorded daily activities suggest assimilation into daily life, and their disorder was not shown as a physical handicap.

TL;DR: Both artistic evidence and moral teachings in ancient Egypt reveal wide integration of individuals with disabilities into the society and Examination of artistic reliefs provides a glance of the role of people with skeletal dysplasia and the societal attitudes toward them.