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Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndrome

We describe a patient presenting with argininosuccinic aciduria and Silver-Russell syndrome (SRS). SRS was caused by maternal uniparental disomy of chromosome 7 (UPD(7)mat). UPD(7)mat also unmasked a maternally inherited splicing variant in ASL on chromosome 7, leading to the onset of argininosuccin...

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Detalles Bibliográficos
Autores principales:	Hattori, Atsushi, Okuyama, Torayuki, So, Tetsumin, Kosuga, Motomichi, Ichimoto, Keiko, Murayama, Kei, Kagami, Masayo, Fukami, Maki, Fukuhara, Yasuyuki
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2022
Materias:	Data Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9468177/ https://www.ncbi.nlm.nih.gov/pubmed/36097158 http://dx.doi.org/10.1038/s41439-022-00211-y

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