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Complete uniparental disomy of chromosome 1 in a child with isolated developmental delay
Complete uniparental disomy of chromosome 1 (UPD1) is an uncommon genetic finding about which a specific phenotype has not yet been established. We present a boy who has complete paternal UPD1 and isolated developmental delay and suggest that there is no clear phenotype of UPD1.
Autores principales: | Wallerstein, Violet, Grant, Leon, Wallerstein, Robert |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9307878/ https://www.ncbi.nlm.nih.gov/pubmed/35898748 http://dx.doi.org/10.1002/ccr3.5956 |
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