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De Novo Subtelomeric 6p25.3 Deletion with Duplication of 6q23.3-q27: Genotype–Phenotype Correlation

Duplications of 6q and deletions of 6p have been reported in more than 30 cases of live born infants and given rise to widespread abnormalities recognizable as a specific clinical syndrome. Different phenotypes have been described with variable clinical signs. Most cases involve the coexistence of u...

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Podrobná bibliografie
Vydáno v:J Pediatr Genet
Hlavní autoři: Atli, Emine Ikbal, Gurkan, Hakan, Atli, Engin, Vatansever, Ulfet, Acunas, Betul, Mail, Cisem
Médium: Artigo
Jazyk:Inglês
Vydáno: Georg Thieme Verlag KG 2020
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6976321/
https://ncbi.nlm.nih.gov/pubmed/31976141
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0039-1694703
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