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

Abstract 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 he...

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Détails bibliographiques
Auteurs principaux: Ayumi Matsumoto, Shintaro Kano, Natsumi Kobayashi, Mitsuru Matsuki, Rieko Furukawa, Hirokazu Yamagishi, Hiroki Yoshinari, Waka Nakata, Hiroko Wakabayashi, Hidetoshi Tsuda, Kazuhisa Watanabe, Hironori Takahashi, Takanori Yamagata, Takayoshi Matsumura, Hitoshi Osaka, Harushi Mori, Sadahiko Iwamoto
Format: Article
Langue:English
Publié: Nature Portfolio 2024-01-01
Collection:Scientific Reports
Accès en ligne:https://doi.org/10.1038/s41598-023-50668-2

Internet

https://doi.org/10.1038/s41598-023-50668-2

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