Myelodysplastic syndrome in an infant with constitutional pure duplication 1q41-qter

We report on a Japanese female infant as the fourth patient with the constitutional pure duplication 1q41-qter confirmed by chromosomal microarray and as the first who developed myelodysplastic syndrome (MDS) among those with the constitutional 1q duplication. Common clinical features of the constit...

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Dades bibliogràfiques
Publicat a:Hum Genome Var
Autors principals: Morokawa, Hirokazu, Kamiya, Motoko, Wakui, Keiko, Kobayashi, Mikiko, Kurata, Takashi, Matsuda, Kazuyuki, Kawamura, Rie, Kanno, Hiroyuki, Fukushima, Yoshimitsu, Nakazawa, Yozo, Kosho, Tomoki
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group UK 2018
Matèries:
Data Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5960645/
https://ncbi.nlm.nih.gov/pubmed/29796285
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-018-0008-8
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