Unfavorable switching of skewed X chromosome inactivation leads to Menkes disease in a female infant
Unfavorable switching of skewed X chromosome inactivation leads to Menkes disease in a female infant
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Author / Creator
Matsumoto, Ayumi , Kano, Shintaro , Kobayashi, Natsumi , Matsuki, Mitsuru , Furukawa, Rieko , Yamagishi, Hirokazu , Yoshinari, Hiroki , Nakata, Waka , Wakabayashi, Hiroko , Tsuda, Hidetoshi , Watanabe, Kazuhisa , Takahashi, Hironori , Yamagata, Takanori , Matsumura, Takayoshi , Osaka, Hitoshi , Mori, Harushi and Iwamoto, Sadahiko
Publisher
London: Nature Publishing Group UK
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English
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Publisher
London: Nature Publishing Group UK
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Contents
Menkes disease is an X-linked disorder of copper metabolism caused by mutations in the
ATP7A
gene, and female carriers are usually asymptomatic. We describe a 7-month-old female patient with severe intellectual disability, epilepsy, and low levels of serum copper and ceruloplasmin. While heterozygous deletion of exons 16 and 17 of the
ATP7...
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Full title
Unfavorable switching of skewed X chromosome inactivation leads to Menkes disease in a female infant
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TN_cdi_doaj_primary_oai_doaj_org_article_1d36231f86614acb8ca5b90f72cc25d5
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_1d36231f86614acb8ca5b90f72cc25d5
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ISSN
2045-2322
E-ISSN
2045-2322
DOI
10.1038/s41598-023-50668-2
