Clinical expression of Menkes syndrome in females.
Clin Genet
; 38(6): 452-9, 1990 Dec.
Article
in En
| MEDLINE
| ID: mdl-2289318
ABSTRACT
Three female patients with Menkes syndrome are described. Clinically, they have typical Menkes syndrome. Biochemically, they have significantly increased 64Cu-uptake in cultured fibroblasts. The chromosomal analysis was normal for two of the patients and abnormal for one patient (45X/46XX mosaicism).
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Phenotype
/
Sex Chromosome Aberrations
/
X Chromosome
/
Gene Expression Regulation
/
Menkes Kinky Hair Syndrome
Type of study:
Diagnostic_studies
Limits:
Child, preschool
/
Female
/
Humans
/
Infant
Language:
En
Journal:
Clin Genet
Year:
1990
Document type:
Article
Affiliation country:
Denmark