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Intellectual disability and microcephaly associated with a novel CHAMP1 mutation

Mutations in a number of genes related to chromosomal segregation reportedly cause developmental disorders, e.g., chromosome alignment-maintaining phosphoprotein 1 (CHAMP1). We report on an 8-year-old Japanese girl who presented with a developmental disorder and microcephaly and carries a novel nons...

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Detalles Bibliográficos
Autores principales:	Asakura, Yuta, Osaka, Hitoshi, Aoi, Hiromi, Mizuguchi, Takeshi, Matsumoto, Naomichi, Yamagata, Takanori
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2021
Materias:	Data Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8371100/ https://www.ncbi.nlm.nih.gov/pubmed/34404773 http://dx.doi.org/10.1038/s41439-021-00165-7

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