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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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Publicado en:J Med Case Rep
Autores principales: Bogs, Thomas, Kipfmüller, Florian, Kohlschmidt, Nicolai, Gembruch, Ulrich, Müller, Andreas, Reutter, Heiko
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2016
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Acceso en línea: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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