Tranebjaerg, L

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