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Clinical expression of Menkes syndrome in females
Author(s) -
Gerdes A.M.,
Tønnesen T.,
Horn N.,
Grisar T.,
Marg W.,
Müller A.,
Reinsch R.,
Barton N. W.,
Guiraud P.,
Joannard A.,
Richard M. J.,
Güttler F.
Publication year - 1990
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1990.tb03612.x
Subject(s) - menkes disease , endocrinology , medicine , biology , chemistry , copper metabolism , organic chemistry , copper
Three female patients with Menkes syndrome are described. Clinically, they have typical Menkes syndrome. Biochemically, they have significantly increased 64 Cu‐uptake in cultured fibroblasts. The chromosomal analysis was normal for two of the patients and abnormal for one patient (45X/46XX mosaicism).