X linked complicated spastic paraplegia, MASA syndrome, and X linked hydrocephalus owing to congenital stenosis of the aqueduct of Sylvius: Variable expression of the same mutation at Xq28 [2]

Journal of Medical Genetics

Volumn 28, Issue 6, 1991, Pages 429-431

  Fryns, J P ^a   Spaepen, A ^a   Cassiman, J J ^a   Van Den Berghe, H ^a  

^a UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

DNA MARKER;

BRAIN AQUEDUCT STENOSIS; CLINICAL ARTICLE; DNA PROBE; GENE EXPRESSION; GENETIC DISORDER; HAPLOTYPE; HUMAN; HYDROCEPHALUS; LETTER; MALE; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; SPASTIC PARAPLEGIA; X CHROMOSOME RECESSIVE INHERITANCE;

ADULT; CASE REPORT; FEMALE; HUMAN; HYDROCEPHALUS; LINKAGE (GENETICS); MALE; MIDDLE AGE; MUTATION; PEDIGREE; SPASTIC PARAPLEGIA, HEREDITARY; X CHROMOSOME;

EID: 0025911628     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

References (0)