A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22. [electronic resource]
- Journal of medical genetics Apr 1995
- 257-63 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
0022-2593
10.1136/jmg.32.4.257 doi
Adolescent Adult Blindness--complications Child Child, Preschool Chromosome Mapping Deafness--complications Dystonia--complications Family Health Female Genes, Recessive Genetic Linkage Heterozygote Humans Intellectual Disability--complications Male Middle Aged Nervous System Diseases--complications Norway Pedigree Pregnancy Syndrome X Chromosome--genetics