Clinical expression of Menkes syndrome in females
- 1 December 1990
- journal article
- case report
- Published by Wiley in Clinical Genetics
- Vol. 38 (6) , 452-459
- https://doi.org/10.1111/j.1399-0004.1990.tb03612.x
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).Keywords
This publication has 12 references indexed in Scilit:
- Monozygotic female twin carriers discordant for the clinical manifestations of Duchenne muscular dystrophyNeurology, 1987
- The clinical consequences of X-chromosome inactivation: Duchenne muscular dystrophy in one of monozygotic twinsJournal of the Neurological Sciences, 1987
- Menkes syndrome in a girl with X‐autosome translocationAmerican Journal of Medical Genetics, 1987
- Muscular dystrophy in girls with X;autosome translocations.Journal of Medical Genetics, 1986
- Ectodermal manifestations in Menkes diseaseClinical Genetics, 1985
- Possibility of a menkes-like disorder of copper metabolism in a girlJournal of Inherited Metabolic Disease, 1983
- AN AUTOPSY CASE OF MENKES KINKY HAIR DISEASEActa Pathologica Japonica, 1978
- DISCUSSION PAPER: LYONIZATION IN HEMOPHILIA: A CAUSE OF ERROR IN DIRECT DETECTION OF HETEROZYGOUS CARRIERS*Annals of the New York Academy of Sciences, 1975