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Familial tetrasomy 4q35.2 associated with congenital diaphragmatic hernia and unilateral renal agenesis: a case report

BACKGROUND: Previous reports of chromosomal aberrations in different forms of congenital diaphragmatic hernia have been described as comprising aneuploidies (for example, trisomy 21), microdeletions, and duplications (for example, monosomy 15q24, 22q11.2). CASE PRESENTATION: We describe the first as...

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Podrobná bibliografie
Vydáno v:J Med Case Rep
Hlavní autoři: Bogs, Thomas, Kipfmüller, Florian, Kohlschmidt, Nicolai, Gembruch, Ulrich, Müller, Andreas, Reutter, Heiko
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2016
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4818464/
https://ncbi.nlm.nih.gov/pubmed/27036947
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13256-016-0855-1
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