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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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:J Med Case Rep
मुख्य लेखकों: Bogs, Thomas, Kipfmüller, Florian, Kohlschmidt, Nicolai, Gembruch, Ulrich, Müller, Andreas, Reutter, Heiko
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: BioMed Central 2016
विषय:
ऑनलाइन पहुंच: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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