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Microdeletion of chromosome 1q21.3 in fraternal twins is associated with mental retardation, microcephaly, and epilepsy

Reported here are twins, both of whom have a 1q21.3 microdeletion and who exhibit key features common to previously reported cases such as microcephaly and developmental delay. However, some clinical findings and deleted genes differed from those in previously reported cases. The karyotype was norma...

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Pubblicato in:Intractable Rare Dis Res
Autori principali: Sonmez, Fatma Mujgan, Uctepe, Eyyup, Aktas, Dilek, Alikasifoglu, Mehmet
Natura: Artigo
Lingua:Inglês
Pubblicazione: International Research and Cooperation Association for Bio & Socio-Sciences Advancement 2017
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5359357/
https://ncbi.nlm.nih.gov/pubmed/28357185
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5582/irdr.2016.01075
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