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Juvenile Muscular Atrophy of a Unilateral Upper Extremity (Hirayama Disease) in a Patient with CHARGE Syndrome

CHARGE syndrome is an autosomal dominant congenital anomaly syndrome, and the causative gene is CHD7. We report a patient with a CHD7 mutation who presented with juvenile muscular atrophy of a unilateral upper extremity, a presumably heterogeneous condition that is also known as Hirayama disease. Th...

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Autori principali: Yagihashi, T., Hatori, K., Ishii, K., Torii, C., Momoshima, S., Takahashi, T., Kosaki, K.
Natura: Artigo
Lingua:Inglês
Pubblicazione: S. Karger AG 2010
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2941845/
https://ncbi.nlm.nih.gov/pubmed/21046013
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000315525
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