A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22

Journal of Medical Genetics

Volumn 32, Issue 4, 1995, Pages 257-263

  Tranebjærg, Lisbeth ^a   Schwartz, Charles ^b   Eriksen, Hans ^a   Andreasson, Sten ^c   Ponjavic, Vesna ^c   Dahl, Arve ^a   Stevenson, Roger E ^b   May, Melanie ^b   Arena, Fernando ^d   Barker, David ^e   Elverland, Hans Hugo ^a   Lubs, Herbert ^a,d  

^a UNIVERSITY HOSPITAL OF NORTH NORWAY   (Norway)

^b GREENWOOD GENETIC CENTER   (United States)

^c LUND UNIVERSITY HOSPITAL   (Sweden)

^d UNIVERSITY OF MIAMI   (United States)

^e UNIVERSITY OF UTAH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEOLIPID PROTEIN;

ADOLESCENT; ADULT; AGED; ARTICLE; BIOCHEMISTRY; BLINDNESS; CHROMOSOME XQ; CLINICAL ARTICLE; DYSTONIA; FAMILY; FAMILY HISTORY; FEMALE; FRACTURE; GENE LOCUS; GENE MUTATION; HEARING IMPAIRMENT; HETEROZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; MENTAL DEFICIENCY; MOLECULAR BIOLOGY; NEUROLOGIC EXAMINATION; NEUROPATHY; NEUROPHYSIOLOGY; NEURORADIOLOGY; NORWAY; PELIZAEUS MERZBACHER DISEASE; PERCEPTION DEAFNESS; PRIORITY JOURNAL; RECESSIVE INHERITANCE; SYMPTOM; X CHROMOSOME LINKAGE;

EID: 0028935319     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.32.4.257     Document Type: Article

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